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NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 30, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000575406.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)]

NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
Other names:
5149del5
HGVS:
  • NC_000017.10:g.41219660_41219664del
  • NC_000017.11:g.43067643ATTAG[1]
  • NG_005905.2:g.150332CTAAT[1]
  • NM_001407571.1:c.4817_4821CTAAT[1]
  • NM_001407581.1:c.5096_5100CTAAT[1]
  • NM_001407582.1:c.5096_5100CTAAT[1]
  • NM_001407583.1:c.5093_5097CTAAT[1]
  • NM_001407585.1:c.5093_5097CTAAT[1]
  • NM_001407587.1:c.5093_5097CTAAT[1]
  • NM_001407590.1:c.5090_5094CTAAT[1]
  • NM_001407591.1:c.5090_5094CTAAT[1]
  • NM_001407593.1:c.5030_5034CTAAT[1]
  • NM_001407594.1:c.5030_5034CTAAT[1]
  • NM_001407596.1:c.5030_5034CTAAT[1]
  • NM_001407597.1:c.5030_5034CTAAT[1]
  • NM_001407598.1:c.5030_5034CTAAT[1]
  • NM_001407602.1:c.5030_5034CTAAT[1]
  • NM_001407603.1:c.5030_5034CTAAT[1]
  • NM_001407605.1:c.5030_5034CTAAT[1]
  • NM_001407610.1:c.5027_5031CTAAT[1]
  • NM_001407611.1:c.5027_5031CTAAT[1]
  • NM_001407612.1:c.5027_5031CTAAT[1]
  • NM_001407613.1:c.5027_5031CTAAT[1]
  • NM_001407614.1:c.5027_5031CTAAT[1]
  • NM_001407615.1:c.5027_5031CTAAT[1]
  • NM_001407616.1:c.5027_5031CTAAT[1]
  • NM_001407617.1:c.5027_5031CTAAT[1]
  • NM_001407618.1:c.5027_5031CTAAT[1]
  • NM_001407619.1:c.5027_5031CTAAT[1]
  • NM_001407620.1:c.5027_5031CTAAT[1]
  • NM_001407621.1:c.5027_5031CTAAT[1]
  • NM_001407622.1:c.5027_5031CTAAT[1]
  • NM_001407623.1:c.5027_5031CTAAT[1]
  • NM_001407624.1:c.5027_5031CTAAT[1]
  • NM_001407625.1:c.5027_5031CTAAT[1]
  • NM_001407626.1:c.5027_5031CTAAT[1]
  • NM_001407627.1:c.5024_5028CTAAT[1]
  • NM_001407628.1:c.5024_5028CTAAT[1]
  • NM_001407629.1:c.5024_5028CTAAT[1]
  • NM_001407630.1:c.5024_5028CTAAT[1]
  • NM_001407631.1:c.5024_5028CTAAT[1]
  • NM_001407632.1:c.5024_5028CTAAT[1]
  • NM_001407633.1:c.5024_5028CTAAT[1]
  • NM_001407634.1:c.5024_5028CTAAT[1]
  • NM_001407635.1:c.5024_5028CTAAT[1]
  • NM_001407636.1:c.5024_5028CTAAT[1]
  • NM_001407637.1:c.5024_5028CTAAT[1]
  • NM_001407638.1:c.5024_5028CTAAT[1]
  • NM_001407639.1:c.5024_5028CTAAT[1]
  • NM_001407640.1:c.5024_5028CTAAT[1]
  • NM_001407641.1:c.5024_5028CTAAT[1]
  • NM_001407642.1:c.5024_5028CTAAT[1]
  • NM_001407644.1:c.5021_5025CTAAT[1]
  • NM_001407645.1:c.5021_5025CTAAT[1]
  • NM_001407646.1:c.5018_5022CTAAT[1]
  • NM_001407647.1:c.5015_5019CTAAT[1]
  • NM_001407648.1:c.4973_4977CTAAT[1]
  • NM_001407649.1:c.4970_4974CTAAT[1]
  • NM_001407652.1:c.5030_5034CTAAT[1]
  • NM_001407653.1:c.4952_4956CTAAT[1]
  • NM_001407654.1:c.4952_4956CTAAT[1]
  • NM_001407655.1:c.4952_4956CTAAT[1]
  • NM_001407656.1:c.4949_4953CTAAT[1]
  • NM_001407657.1:c.4949_4953CTAAT[1]
  • NM_001407658.1:c.4949_4953CTAAT[1]
  • NM_001407659.1:c.4946_4950CTAAT[1]
  • NM_001407660.1:c.4946_4950CTAAT[1]
  • NM_001407661.1:c.4946_4950CTAAT[1]
  • NM_001407662.1:c.4946_4950CTAAT[1]
  • NM_001407663.1:c.4946_4950CTAAT[1]
  • NM_001407664.1:c.4907_4911CTAAT[1]
  • NM_001407665.1:c.4907_4911CTAAT[1]
  • NM_001407666.1:c.4907_4911CTAAT[1]
  • NM_001407667.1:c.4907_4911CTAAT[1]
  • NM_001407668.1:c.4907_4911CTAAT[1]
  • NM_001407669.1:c.4907_4911CTAAT[1]
  • NM_001407670.1:c.4904_4908CTAAT[1]
  • NM_001407671.1:c.4904_4908CTAAT[1]
  • NM_001407672.1:c.4904_4908CTAAT[1]
  • NM_001407673.1:c.4904_4908CTAAT[1]
  • NM_001407674.1:c.4904_4908CTAAT[1]
  • NM_001407675.1:c.4904_4908CTAAT[1]
  • NM_001407676.1:c.4904_4908CTAAT[1]
  • NM_001407677.1:c.4904_4908CTAAT[1]
  • NM_001407678.1:c.4904_4908CTAAT[1]
  • NM_001407679.1:c.4904_4908CTAAT[1]
  • NM_001407680.1:c.4904_4908CTAAT[1]
  • NM_001407681.1:c.4901_4905CTAAT[1]
  • NM_001407682.1:c.4901_4905CTAAT[1]
  • NM_001407683.1:c.4901_4905CTAAT[1]
  • NM_001407684.1:c.5030_5034CTAAT[1]
  • NM_001407685.1:c.4901_4905CTAAT[1]
  • NM_001407686.1:c.4901_4905CTAAT[1]
  • NM_001407687.1:c.4901_4905CTAAT[1]
  • NM_001407688.1:c.4901_4905CTAAT[1]
  • NM_001407689.1:c.4901_4905CTAAT[1]
  • NM_001407690.1:c.4898_4902CTAAT[1]
  • NM_001407691.1:c.4898_4902CTAAT[1]
  • NM_001407692.1:c.4889_4893CTAAT[1]
  • NM_001407694.1:c.4889_4893CTAAT[1]
  • NM_001407695.1:c.4889_4893CTAAT[1]
  • NM_001407696.1:c.4889_4893CTAAT[1]
  • NM_001407697.1:c.4889_4893CTAAT[1]
  • NM_001407698.1:c.4889_4893CTAAT[1]
  • NM_001407724.1:c.4889_4893CTAAT[1]
  • NM_001407725.1:c.4889_4893CTAAT[1]
  • NM_001407726.1:c.4889_4893CTAAT[1]
  • NM_001407727.1:c.4889_4893CTAAT[1]
  • NM_001407728.1:c.4889_4893CTAAT[1]
  • NM_001407729.1:c.4889_4893CTAAT[1]
  • NM_001407730.1:c.4889_4893CTAAT[1]
  • NM_001407731.1:c.4889_4893CTAAT[1]
  • NM_001407732.1:c.4886_4890CTAAT[1]
  • NM_001407733.1:c.4886_4890CTAAT[1]
  • NM_001407734.1:c.4886_4890CTAAT[1]
  • NM_001407735.1:c.4886_4890CTAAT[1]
  • NM_001407736.1:c.4886_4890CTAAT[1]
  • NM_001407737.1:c.4886_4890CTAAT[1]
  • NM_001407738.1:c.4886_4890CTAAT[1]
  • NM_001407739.1:c.4886_4890CTAAT[1]
  • NM_001407740.1:c.4886_4890CTAAT[1]
  • NM_001407741.1:c.4886_4890CTAAT[1]
  • NM_001407742.1:c.4886_4890CTAAT[1]
  • NM_001407743.1:c.4886_4890CTAAT[1]
  • NM_001407744.1:c.4886_4890CTAAT[1]
  • NM_001407745.1:c.4886_4890CTAAT[1]
  • NM_001407746.1:c.4886_4890CTAAT[1]
  • NM_001407747.1:c.4886_4890CTAAT[1]
  • NM_001407748.1:c.4886_4890CTAAT[1]
  • NM_001407749.1:c.4886_4890CTAAT[1]
  • NM_001407750.1:c.4886_4890CTAAT[1]
  • NM_001407751.1:c.4886_4890CTAAT[1]
  • NM_001407752.1:c.4886_4890CTAAT[1]
  • NM_001407838.1:c.4883_4887CTAAT[1]
  • NM_001407839.1:c.4883_4887CTAAT[1]
  • NM_001407841.1:c.4883_4887CTAAT[1]
  • NM_001407842.1:c.4883_4887CTAAT[1]
  • NM_001407843.1:c.4883_4887CTAAT[1]
  • NM_001407844.1:c.4883_4887CTAAT[1]
  • NM_001407845.1:c.4883_4887CTAAT[1]
  • NM_001407846.1:c.4883_4887CTAAT[1]
  • NM_001407847.1:c.4883_4887CTAAT[1]
  • NM_001407848.1:c.4883_4887CTAAT[1]
  • NM_001407849.1:c.4883_4887CTAAT[1]
  • NM_001407850.1:c.4883_4887CTAAT[1]
  • NM_001407851.1:c.4883_4887CTAAT[1]
  • NM_001407852.1:c.4883_4887CTAAT[1]
  • NM_001407853.1:c.4883_4887CTAAT[1]
  • NM_001407854.1:c.5030_5034CTAAT[1]
  • NM_001407858.1:c.5027_5031CTAAT[1]
  • NM_001407859.1:c.5027_5031CTAAT[1]
  • NM_001407860.1:c.5027_5031CTAAT[1]
  • NM_001407861.1:c.5024_5028CTAAT[1]
  • NM_001407862.1:c.4829_4833CTAAT[1]
  • NM_001407863.1:c.4904_4908CTAAT[1]
  • NM_001407874.1:c.4823_4827CTAAT[1]
  • NM_001407875.1:c.4823_4827CTAAT[1]
  • NM_001407879.1:c.4820_4824CTAAT[1]
  • NM_001407881.1:c.4820_4824CTAAT[1]
  • NM_001407882.1:c.4820_4824CTAAT[1]
  • NM_001407884.1:c.4820_4824CTAAT[1]
  • NM_001407885.1:c.4820_4824CTAAT[1]
  • NM_001407886.1:c.4820_4824CTAAT[1]
  • NM_001407887.1:c.4820_4824CTAAT[1]
  • NM_001407889.1:c.4820_4824CTAAT[1]
  • NM_001407894.1:c.4817_4821CTAAT[1]
  • NM_001407895.1:c.4817_4821CTAAT[1]
  • NM_001407896.1:c.4817_4821CTAAT[1]
  • NM_001407897.1:c.4817_4821CTAAT[1]
  • NM_001407898.1:c.4817_4821CTAAT[1]
  • NM_001407899.1:c.4817_4821CTAAT[1]
  • NM_001407900.1:c.4817_4821CTAAT[1]
  • NM_001407902.1:c.4817_4821CTAAT[1]
  • NM_001407904.1:c.4817_4821CTAAT[1]
  • NM_001407906.1:c.4817_4821CTAAT[1]
  • NM_001407907.1:c.4817_4821CTAAT[1]
  • NM_001407908.1:c.4817_4821CTAAT[1]
  • NM_001407909.1:c.4817_4821CTAAT[1]
  • NM_001407910.1:c.4817_4821CTAAT[1]
  • NM_001407915.1:c.4814_4818CTAAT[1]
  • NM_001407916.1:c.4814_4818CTAAT[1]
  • NM_001407917.1:c.4814_4818CTAAT[1]
  • NM_001407918.1:c.4814_4818CTAAT[1]
  • NM_001407919.1:c.4907_4911CTAAT[1]
  • NM_001407920.1:c.4766_4770CTAAT[1]
  • NM_001407921.1:c.4766_4770CTAAT[1]
  • NM_001407922.1:c.4766_4770CTAAT[1]
  • NM_001407923.1:c.4766_4770CTAAT[1]
  • NM_001407924.1:c.4766_4770CTAAT[1]
  • NM_001407925.1:c.4766_4770CTAAT[1]
  • NM_001407926.1:c.4766_4770CTAAT[1]
  • NM_001407927.1:c.4763_4767CTAAT[1]
  • NM_001407928.1:c.4763_4767CTAAT[1]
  • NM_001407929.1:c.4763_4767CTAAT[1]
  • NM_001407930.1:c.4763_4767CTAAT[1]
  • NM_001407931.1:c.4763_4767CTAAT[1]
  • NM_001407932.1:c.4763_4767CTAAT[1]
  • NM_001407933.1:c.4763_4767CTAAT[1]
  • NM_001407934.1:c.4760_4764CTAAT[1]
  • NM_001407935.1:c.4760_4764CTAAT[1]
  • NM_001407936.1:c.4760_4764CTAAT[1]
  • NM_001407937.1:c.4907_4911CTAAT[1]
  • NM_001407938.1:c.4907_4911CTAAT[1]
  • NM_001407939.1:c.4904_4908CTAAT[1]
  • NM_001407940.1:c.4904_4908CTAAT[1]
  • NM_001407941.1:c.4901_4905CTAAT[1]
  • NM_001407942.1:c.4889_4893CTAAT[1]
  • NM_001407943.1:c.4886_4890CTAAT[1]
  • NM_001407944.1:c.4886_4890CTAAT[1]
  • NM_001407945.1:c.4886_4890CTAAT[1]
  • NM_001407946.1:c.4697_4701CTAAT[1]
  • NM_001407947.1:c.4697_4701CTAAT[1]
  • NM_001407948.1:c.4697_4701CTAAT[1]
  • NM_001407949.1:c.4697_4701CTAAT[1]
  • NM_001407950.1:c.4694_4698CTAAT[1]
  • NM_001407951.1:c.4694_4698CTAAT[1]
  • NM_001407952.1:c.4694_4698CTAAT[1]
  • NM_001407953.1:c.4694_4698CTAAT[1]
  • NM_001407954.1:c.4694_4698CTAAT[1]
  • NM_001407955.1:c.4694_4698CTAAT[1]
  • NM_001407956.1:c.4691_4695CTAAT[1]
  • NM_001407957.1:c.4691_4695CTAAT[1]
  • NM_001407958.1:c.4691_4695CTAAT[1]
  • NM_001407959.1:c.4649_4653CTAAT[1]
  • NM_001407960.1:c.4646_4650CTAAT[1]
  • NM_001407962.1:c.4646_4650CTAAT[1]
  • NM_001407963.1:c.4643_4647CTAAT[1]
  • NM_001407964.1:c.4568_4572CTAAT[1]
  • NM_001407965.1:c.4523_4527CTAAT[1]
  • NM_001407966.1:c.4142_4146CTAAT[1]
  • NM_001407967.1:c.4139_4143CTAAT[1]
  • NM_001407968.1:c.2426_2430CTAAT[1]
  • NM_001407969.1:c.2423_2427CTAAT[1]
  • NM_001407970.1:c.1787_1791CTAAT[1]
  • NM_001407971.1:c.1787_1791CTAAT[1]
  • NM_001407972.1:c.1784_1788CTAAT[1]
  • NM_001407973.1:c.1721_1725CTAAT[1]
  • NM_001407974.1:c.1721_1725CTAAT[1]
  • NM_001407975.1:c.1721_1725CTAAT[1]
  • NM_001407976.1:c.1721_1725CTAAT[1]
  • NM_001407977.1:c.1721_1725CTAAT[1]
  • NM_001407978.1:c.1721_1725CTAAT[1]
  • NM_001407979.1:c.1718_1722CTAAT[1]
  • NM_001407980.1:c.1718_1722CTAAT[1]
  • NM_001407981.1:c.1718_1722CTAAT[1]
  • NM_001407982.1:c.1718_1722CTAAT[1]
  • NM_001407983.1:c.1718_1722CTAAT[1]
  • NM_001407984.1:c.1718_1722CTAAT[1]
  • NM_001407985.1:c.1718_1722CTAAT[1]
  • NM_001407986.1:c.1718_1722CTAAT[1]
  • NM_001407990.1:c.1718_1722CTAAT[1]
  • NM_001407991.1:c.1718_1722CTAAT[1]
  • NM_001407992.1:c.1718_1722CTAAT[1]
  • NM_001407993.1:c.1718_1722CTAAT[1]
  • NM_001408392.1:c.1715_1719CTAAT[1]
  • NM_001408396.1:c.1715_1719CTAAT[1]
  • NM_001408397.1:c.1715_1719CTAAT[1]
  • NM_001408398.1:c.1715_1719CTAAT[1]
  • NM_001408399.1:c.1715_1719CTAAT[1]
  • NM_001408400.1:c.1715_1719CTAAT[1]
  • NM_001408401.1:c.1715_1719CTAAT[1]
  • NM_001408402.1:c.1715_1719CTAAT[1]
  • NM_001408403.1:c.1715_1719CTAAT[1]
  • NM_001408404.1:c.1715_1719CTAAT[1]
  • NM_001408406.1:c.1712_1716CTAAT[1]
  • NM_001408407.1:c.1712_1716CTAAT[1]
  • NM_001408408.1:c.1712_1716CTAAT[1]
  • NM_001408409.1:c.1709_1713CTAAT[1]
  • NM_001408410.1:c.1646_1650CTAAT[1]
  • NM_001408411.1:c.1643_1647CTAAT[1]
  • NM_001408412.1:c.1640_1644CTAAT[1]
  • NM_001408413.1:c.1640_1644CTAAT[1]
  • NM_001408414.1:c.1640_1644CTAAT[1]
  • NM_001408415.1:c.1640_1644CTAAT[1]
  • NM_001408416.1:c.1640_1644CTAAT[1]
  • NM_001408418.1:c.1604_1608CTAAT[1]
  • NM_001408419.1:c.1604_1608CTAAT[1]
  • NM_001408420.1:c.1604_1608CTAAT[1]
  • NM_001408421.1:c.1601_1605CTAAT[1]
  • NM_001408422.1:c.1601_1605CTAAT[1]
  • NM_001408423.1:c.1601_1605CTAAT[1]
  • NM_001408424.1:c.1601_1605CTAAT[1]
  • NM_001408425.1:c.1598_1602CTAAT[1]
  • NM_001408426.1:c.1598_1602CTAAT[1]
  • NM_001408427.1:c.1598_1602CTAAT[1]
  • NM_001408428.1:c.1598_1602CTAAT[1]
  • NM_001408429.1:c.1598_1602CTAAT[1]
  • NM_001408430.1:c.1598_1602CTAAT[1]
  • NM_001408431.1:c.1598_1602CTAAT[1]
  • NM_001408432.1:c.1595_1599CTAAT[1]
  • NM_001408433.1:c.1595_1599CTAAT[1]
  • NM_001408434.1:c.1595_1599CTAAT[1]
  • NM_001408435.1:c.1595_1599CTAAT[1]
  • NM_001408436.1:c.1595_1599CTAAT[1]
  • NM_001408437.1:c.1595_1599CTAAT[1]
  • NM_001408438.1:c.1595_1599CTAAT[1]
  • NM_001408439.1:c.1595_1599CTAAT[1]
  • NM_001408440.1:c.1595_1599CTAAT[1]
  • NM_001408441.1:c.1595_1599CTAAT[1]
  • NM_001408442.1:c.1595_1599CTAAT[1]
  • NM_001408443.1:c.1595_1599CTAAT[1]
  • NM_001408444.1:c.1595_1599CTAAT[1]
  • NM_001408445.1:c.1592_1596CTAAT[1]
  • NM_001408446.1:c.1592_1596CTAAT[1]
  • NM_001408447.1:c.1592_1596CTAAT[1]
  • NM_001408448.1:c.1592_1596CTAAT[1]
  • NM_001408450.1:c.1592_1596CTAAT[1]
  • NM_001408451.1:c.1586_1590CTAAT[1]
  • NM_001408452.1:c.1580_1584CTAAT[1]
  • NM_001408453.1:c.1580_1584CTAAT[1]
  • NM_001408454.1:c.1580_1584CTAAT[1]
  • NM_001408455.1:c.1580_1584CTAAT[1]
  • NM_001408456.1:c.1580_1584CTAAT[1]
  • NM_001408457.1:c.1580_1584CTAAT[1]
  • NM_001408458.1:c.1577_1581CTAAT[1]
  • NM_001408459.1:c.1577_1581CTAAT[1]
  • NM_001408460.1:c.1577_1581CTAAT[1]
  • NM_001408461.1:c.1577_1581CTAAT[1]
  • NM_001408462.1:c.1577_1581CTAAT[1]
  • NM_001408463.1:c.1577_1581CTAAT[1]
  • NM_001408464.1:c.1577_1581CTAAT[1]
  • NM_001408465.1:c.1577_1581CTAAT[1]
  • NM_001408466.1:c.1577_1581CTAAT[1]
  • NM_001408467.1:c.1577_1581CTAAT[1]
  • NM_001408468.1:c.1574_1578CTAAT[1]
  • NM_001408469.1:c.1574_1578CTAAT[1]
  • NM_001408470.1:c.1574_1578CTAAT[1]
  • NM_001408472.1:c.1718_1722CTAAT[1]
  • NM_001408473.1:c.1715_1719CTAAT[1]
  • NM_001408474.1:c.1520_1524CTAAT[1]
  • NM_001408475.1:c.1517_1521CTAAT[1]
  • NM_001408476.1:c.1517_1521CTAAT[1]
  • NM_001408478.1:c.1511_1515CTAAT[1]
  • NM_001408479.1:c.1511_1515CTAAT[1]
  • NM_001408480.1:c.1511_1515CTAAT[1]
  • NM_001408481.1:c.1508_1512CTAAT[1]
  • NM_001408482.1:c.1508_1512CTAAT[1]
  • NM_001408483.1:c.1508_1512CTAAT[1]
  • NM_001408484.1:c.1508_1512CTAAT[1]
  • NM_001408485.1:c.1508_1512CTAAT[1]
  • NM_001408489.1:c.1508_1512CTAAT[1]
  • NM_001408490.1:c.1508_1512CTAAT[1]
  • NM_001408491.1:c.1508_1512CTAAT[1]
  • NM_001408492.1:c.1505_1509CTAAT[1]
  • NM_001408493.1:c.1505_1509CTAAT[1]
  • NM_001408494.1:c.1481_1485CTAAT[1]
  • NM_001408495.1:c.1475_1479CTAAT[1]
  • NM_001408496.1:c.1457_1461CTAAT[1]
  • NM_001408497.1:c.1457_1461CTAAT[1]
  • NM_001408498.1:c.1457_1461CTAAT[1]
  • NM_001408499.1:c.1457_1461CTAAT[1]
  • NM_001408500.1:c.1457_1461CTAAT[1]
  • NM_001408501.1:c.1457_1461CTAAT[1]
  • NM_001408502.1:c.1454_1458CTAAT[1]
  • NM_001408503.1:c.1454_1458CTAAT[1]
  • NM_001408504.1:c.1454_1458CTAAT[1]
  • NM_001408505.1:c.1451_1455CTAAT[1]
  • NM_001408506.1:c.1394_1398CTAAT[1]
  • NM_001408507.1:c.1391_1395CTAAT[1]
  • NM_001408508.1:c.1382_1386CTAAT[1]
  • NM_001408509.1:c.1379_1383CTAAT[1]
  • NM_001408510.1:c.1340_1344CTAAT[1]
  • NM_001408511.1:c.1337_1341CTAAT[1]
  • NM_001408512.1:c.1217_1221CTAAT[1]
  • NM_001408513.1:c.1190_1194CTAAT[1]
  • NM_007294.4:c.5035_5039delMANE SELECT
  • NM_007297.4:c.4894_4898del
  • NM_007298.4:c.1718_1722CTAAT[1]
  • NM_007299.4:c.1723_1727del
  • NM_007300.4:c.5098_5102del
  • NM_007304.2:c.1718_1722CTAAT[1]
  • NP_001394500.1:p.Leu1608Tyrfs
  • NP_001394510.1:p.Leu1701Tyrfs
  • NP_001394511.1:p.Leu1701Tyrfs
  • NP_001394512.1:p.Leu1700Tyrfs
  • NP_001394514.1:p.Leu1700Tyrfs
  • NP_001394516.1:p.Leu1700Tyrfs
  • NP_001394519.1:p.Leu1699Tyrfs
  • NP_001394520.1:p.Leu1699Tyrfs
  • NP_001394522.1:p.Leu1679Tyrfs
  • NP_001394523.1:p.Leu1679Tyrfs
  • NP_001394525.1:p.Leu1679Tyrfs
  • NP_001394526.1:p.Leu1679Tyrfs
  • NP_001394527.1:p.Leu1679Tyrfs
  • NP_001394531.1:p.Leu1679Tyrfs
  • NP_001394532.1:p.Leu1679Tyrfs
  • NP_001394534.1:p.Leu1679Tyrfs
  • NP_001394539.1:p.Leu1678Tyrfs
  • NP_001394540.1:p.Leu1678Tyrfs
  • NP_001394541.1:p.Leu1678Tyrfs
  • NP_001394542.1:p.Leu1678Tyrfs
  • NP_001394543.1:p.Leu1678Tyrfs
  • NP_001394544.1:p.Leu1678Tyrfs
  • NP_001394545.1:p.Leu1678Tyrfs
  • NP_001394546.1:p.Leu1678Tyrfs
  • NP_001394547.1:p.Leu1678Tyrfs
  • NP_001394548.1:p.Leu1678Tyrfs
  • NP_001394549.1:p.Leu1678Tyrfs
  • NP_001394550.1:p.Leu1678Tyrfs
  • NP_001394551.1:p.Leu1678Tyrfs
  • NP_001394552.1:p.Leu1678Tyrfs
  • NP_001394553.1:p.Leu1678Tyrfs
  • NP_001394554.1:p.Leu1678Tyrfs
  • NP_001394555.1:p.Leu1678Tyrfs
  • NP_001394556.1:p.Leu1677Tyrfs
  • NP_001394557.1:p.Leu1677Tyrfs
  • NP_001394558.1:p.Leu1677Tyrfs
  • NP_001394559.1:p.Leu1677Tyrfs
  • NP_001394560.1:p.Leu1677Tyrfs
  • NP_001394561.1:p.Leu1677Tyrfs
  • NP_001394562.1:p.Leu1677Tyrfs
  • NP_001394563.1:p.Leu1677Tyrfs
  • NP_001394564.1:p.Leu1677Tyrfs
  • NP_001394565.1:p.Leu1677Tyrfs
  • NP_001394566.1:p.Leu1677Tyrfs
  • NP_001394567.1:p.Leu1677Tyrfs
  • NP_001394568.1:p.Leu1677Tyrfs
  • NP_001394569.1:p.Leu1677Tyrfs
  • NP_001394570.1:p.Leu1677Tyrfs
  • NP_001394571.1:p.Leu1677Tyrfs
  • NP_001394573.1:p.Leu1676Tyrfs
  • NP_001394574.1:p.Leu1676Tyrfs
  • NP_001394575.1:p.Leu1675Tyrfs
  • NP_001394576.1:p.Leu1674Tyrfs
  • NP_001394577.1:p.Leu1660Tyrfs
  • NP_001394578.1:p.Leu1659Tyrfs
  • NP_001394581.1:p.Leu1679Tyrfs
  • NP_001394582.1:p.Leu1653Tyrfs
  • NP_001394583.1:p.Leu1653Tyrfs
  • NP_001394584.1:p.Leu1653Tyrfs
  • NP_001394585.1:p.Leu1652Tyrfs
  • NP_001394586.1:p.Leu1652Tyrfs
  • NP_001394587.1:p.Leu1652Tyrfs
  • NP_001394588.1:p.Leu1651Tyrfs
  • NP_001394589.1:p.Leu1651Tyrfs
  • NP_001394590.1:p.Leu1651Tyrfs
  • NP_001394591.1:p.Leu1651Tyrfs
  • NP_001394592.1:p.Leu1651Tyrfs
  • NP_001394593.1:p.Leu1638Tyrfs
  • NP_001394594.1:p.Leu1638Tyrfs
  • NP_001394595.1:p.Leu1638Tyrfs
  • NP_001394596.1:p.Leu1638Tyrfs
  • NP_001394597.1:p.Leu1638Tyrfs
  • NP_001394598.1:p.Leu1638Tyrfs
  • NP_001394599.1:p.Leu1637Tyrfs
  • NP_001394600.1:p.Leu1637Tyrfs
  • NP_001394601.1:p.Leu1637Tyrfs
  • NP_001394602.1:p.Leu1637Tyrfs
  • NP_001394603.1:p.Leu1637Tyrfs
  • NP_001394604.1:p.Leu1637Tyrfs
  • NP_001394605.1:p.Leu1637Tyrfs
  • NP_001394606.1:p.Leu1637Tyrfs
  • NP_001394607.1:p.Leu1637Tyrfs
  • NP_001394608.1:p.Leu1637Tyrfs
  • NP_001394609.1:p.Leu1637Tyrfs
  • NP_001394610.1:p.Leu1636Tyrfs
  • NP_001394611.1:p.Leu1636Tyrfs
  • NP_001394612.1:p.Leu1636Tyrfs
  • NP_001394613.1:p.Leu1679Tyrfs
  • NP_001394614.1:p.Leu1636Tyrfs
  • NP_001394615.1:p.Leu1636Tyrfs
  • NP_001394616.1:p.Leu1636Tyrfs
  • NP_001394617.1:p.Leu1636Tyrfs
  • NP_001394618.1:p.Leu1636Tyrfs
  • NP_001394619.1:p.Leu1635Tyrfs
  • NP_001394620.1:p.Leu1635Tyrfs
  • NP_001394621.1:p.Leu1632Tyrfs
  • NP_001394623.1:p.Leu1632Tyrfs
  • NP_001394624.1:p.Leu1632Tyrfs
  • NP_001394625.1:p.Leu1632Tyrfs
  • NP_001394626.1:p.Leu1632Tyrfs
  • NP_001394627.1:p.Leu1632Tyrfs
  • NP_001394653.1:p.Leu1632Tyrfs
  • NP_001394654.1:p.Leu1632Tyrfs
  • NP_001394655.1:p.Leu1632Tyrfs
  • NP_001394656.1:p.Leu1632Tyrfs
  • NP_001394657.1:p.Leu1632Tyrfs
  • NP_001394658.1:p.Leu1632Tyrfs
  • NP_001394659.1:p.Leu1632Tyrfs
  • NP_001394660.1:p.Leu1632Tyrfs
  • NP_001394661.1:p.Leu1631Tyrfs
  • NP_001394662.1:p.Leu1631Tyrfs
  • NP_001394663.1:p.Leu1631Tyrfs
  • NP_001394664.1:p.Leu1631Tyrfs
  • NP_001394665.1:p.Leu1631Tyrfs
  • NP_001394666.1:p.Leu1631Tyrfs
  • NP_001394667.1:p.Leu1631Tyrfs
  • NP_001394668.1:p.Leu1631Tyrfs
  • NP_001394669.1:p.Leu1631Tyrfs
  • NP_001394670.1:p.Leu1631Tyrfs
  • NP_001394671.1:p.Leu1631Tyrfs
  • NP_001394672.1:p.Leu1631Tyrfs
  • NP_001394673.1:p.Leu1631Tyrfs
  • NP_001394674.1:p.Leu1631Tyrfs
  • NP_001394675.1:p.Leu1631Tyrfs
  • NP_001394676.1:p.Leu1631Tyrfs
  • NP_001394677.1:p.Leu1631Tyrfs
  • NP_001394678.1:p.Leu1631Tyrfs
  • NP_001394679.1:p.Leu1631Tyrfs
  • NP_001394680.1:p.Leu1631Tyrfs
  • NP_001394681.1:p.Leu1631Tyrfs
  • NP_001394767.1:p.Leu1630Tyrfs
  • NP_001394768.1:p.Leu1630Tyrfs
  • NP_001394770.1:p.Leu1630Tyrfs
  • NP_001394771.1:p.Leu1630Tyrfs
  • NP_001394772.1:p.Leu1630Tyrfs
  • NP_001394773.1:p.Leu1630Tyrfs
  • NP_001394774.1:p.Leu1630Tyrfs
  • NP_001394775.1:p.Leu1630Tyrfs
  • NP_001394776.1:p.Leu1630Tyrfs
  • NP_001394777.1:p.Leu1630Tyrfs
  • NP_001394778.1:p.Leu1630Tyrfs
  • NP_001394779.1:p.Leu1630Tyrfs
  • NP_001394780.1:p.Leu1630Tyrfs
  • NP_001394781.1:p.Leu1630Tyrfs
  • NP_001394782.1:p.Leu1630Tyrfs
  • NP_001394783.1:p.Leu1679Tyrfs
  • NP_001394787.1:p.Leu1678Tyrfs
  • NP_001394788.1:p.Leu1678Tyrfs
  • NP_001394789.1:p.Leu1678Tyrfs
  • NP_001394790.1:p.Leu1677Tyrfs
  • NP_001394791.1:p.Leu1612Tyrfs
  • NP_001394792.1:p.Leu1637Tyrfs
  • NP_001394803.1:p.Leu1610Tyrfs
  • NP_001394804.1:p.Leu1610Tyrfs
  • NP_001394808.1:p.Leu1609Tyrfs
  • NP_001394810.1:p.Leu1609Tyrfs
  • NP_001394811.1:p.Leu1609Tyrfs
  • NP_001394813.1:p.Leu1609Tyrfs
  • NP_001394814.1:p.Leu1609Tyrfs
  • NP_001394815.1:p.Leu1609Tyrfs
  • NP_001394816.1:p.Leu1609Tyrfs
  • NP_001394818.1:p.Leu1609Tyrfs
  • NP_001394823.1:p.Leu1608Tyrfs
  • NP_001394824.1:p.Leu1608Tyrfs
  • NP_001394825.1:p.Leu1608Tyrfs
  • NP_001394826.1:p.Leu1608Tyrfs
  • NP_001394827.1:p.Leu1608Tyrfs
  • NP_001394828.1:p.Leu1608Tyrfs
  • NP_001394829.1:p.Leu1608Tyrfs
  • NP_001394831.1:p.Leu1608Tyrfs
  • NP_001394833.1:p.Leu1608Tyrfs
  • NP_001394835.1:p.Leu1608Tyrfs
  • NP_001394836.1:p.Leu1608Tyrfs
  • NP_001394837.1:p.Leu1608Tyrfs
  • NP_001394838.1:p.Leu1608Tyrfs
  • NP_001394839.1:p.Leu1608Tyrfs
  • NP_001394844.1:p.Leu1607Tyrfs
  • NP_001394845.1:p.Leu1607Tyrfs
  • NP_001394846.1:p.Leu1607Tyrfs
  • NP_001394847.1:p.Leu1607Tyrfs
  • NP_001394848.1:p.Leu1638Tyrfs
  • NP_001394849.1:p.Leu1591Tyrfs
  • NP_001394850.1:p.Leu1591Tyrfs
  • NP_001394851.1:p.Leu1591Tyrfs
  • NP_001394852.1:p.Leu1591Tyrfs
  • NP_001394853.1:p.Leu1591Tyrfs
  • NP_001394854.1:p.Leu1591Tyrfs
  • NP_001394855.1:p.Leu1591Tyrfs
  • NP_001394856.1:p.Leu1590Tyrfs
  • NP_001394857.1:p.Leu1590Tyrfs
  • NP_001394858.1:p.Leu1590Tyrfs
  • NP_001394859.1:p.Leu1590Tyrfs
  • NP_001394860.1:p.Leu1590Tyrfs
  • NP_001394861.1:p.Leu1590Tyrfs
  • NP_001394862.1:p.Leu1590Tyrfs
  • NP_001394863.1:p.Leu1589Tyrfs
  • NP_001394864.1:p.Leu1589Tyrfs
  • NP_001394865.1:p.Leu1589Tyrfs
  • NP_001394866.1:p.Leu1638Tyrfs
  • NP_001394867.1:p.Leu1638Tyrfs
  • NP_001394868.1:p.Leu1637Tyrfs
  • NP_001394869.1:p.Leu1637Tyrfs
  • NP_001394870.1:p.Leu1636Tyrfs
  • NP_001394871.1:p.Leu1632Tyrfs
  • NP_001394872.1:p.Leu1631Tyrfs
  • NP_001394873.1:p.Leu1631Tyrfs
  • NP_001394874.1:p.Leu1631Tyrfs
  • NP_001394875.1:p.Leu1568Tyrfs
  • NP_001394876.1:p.Leu1568Tyrfs
  • NP_001394877.1:p.Leu1568Tyrfs
  • NP_001394878.1:p.Leu1568Tyrfs
  • NP_001394879.1:p.Leu1567Tyrfs
  • NP_001394880.1:p.Leu1567Tyrfs
  • NP_001394881.1:p.Leu1567Tyrfs
  • NP_001394882.1:p.Leu1567Tyrfs
  • NP_001394883.1:p.Leu1567Tyrfs
  • NP_001394884.1:p.Leu1567Tyrfs
  • NP_001394885.1:p.Leu1566Tyrfs
  • NP_001394886.1:p.Leu1566Tyrfs
  • NP_001394887.1:p.Leu1566Tyrfs
  • NP_001394888.1:p.Leu1552Tyrfs
  • NP_001394889.1:p.Leu1551Tyrfs
  • NP_001394891.1:p.Leu1551Tyrfs
  • NP_001394892.1:p.Leu1550Tyrfs
  • NP_001394893.1:p.Leu1525Tyrfs
  • NP_001394894.1:p.Leu1510Tyrfs
  • NP_001394895.1:p.Leu1383Tyrfs
  • NP_001394896.1:p.Leu1382Tyrfs
  • NP_001394897.1:p.Leu811Tyrfs
  • NP_001394898.1:p.Leu810Tyrfs
  • NP_001394899.1:p.Leu598Tyrfs
  • NP_001394900.1:p.Leu598Tyrfs
  • NP_001394901.1:p.Leu597Tyrfs
  • NP_001394902.1:p.Leu576Tyrfs
  • NP_001394903.1:p.Leu576Tyrfs
  • NP_001394904.1:p.Leu576Tyrfs
  • NP_001394905.1:p.Leu576Tyrfs
  • NP_001394906.1:p.Leu576Tyrfs
  • NP_001394907.1:p.Leu576Tyrfs
  • NP_001394908.1:p.Leu575Tyrfs
  • NP_001394909.1:p.Leu575Tyrfs
  • NP_001394910.1:p.Leu575Tyrfs
  • NP_001394911.1:p.Leu575Tyrfs
  • NP_001394912.1:p.Leu575Tyrfs
  • NP_001394913.1:p.Leu575Tyrfs
  • NP_001394914.1:p.Leu575Tyrfs
  • NP_001394915.1:p.Leu575Tyrfs
  • NP_001394919.1:p.Leu575Tyrfs
  • NP_001394920.1:p.Leu575Tyrfs
  • NP_001394921.1:p.Leu575Tyrfs
  • NP_001394922.1:p.Leu575Tyrfs
  • NP_001395321.1:p.Leu574Tyrfs
  • NP_001395325.1:p.Leu574Tyrfs
  • NP_001395326.1:p.Leu574Tyrfs
  • NP_001395327.1:p.Leu574Tyrfs
  • NP_001395328.1:p.Leu574Tyrfs
  • NP_001395329.1:p.Leu574Tyrfs
  • NP_001395330.1:p.Leu574Tyrfs
  • NP_001395331.1:p.Leu574Tyrfs
  • NP_001395332.1:p.Leu574Tyrfs
  • NP_001395333.1:p.Leu574Tyrfs
  • NP_001395335.1:p.Leu573Tyrfs
  • NP_001395336.1:p.Leu573Tyrfs
  • NP_001395337.1:p.Leu573Tyrfs
  • NP_001395338.1:p.Leu572Tyrfs
  • NP_001395339.1:p.Leu551Tyrfs
  • NP_001395340.1:p.Leu550Tyrfs
  • NP_001395341.1:p.Leu549Tyrfs
  • NP_001395342.1:p.Leu549Tyrfs
  • NP_001395343.1:p.Leu549Tyrfs
  • NP_001395344.1:p.Leu549Tyrfs
  • NP_001395345.1:p.Leu549Tyrfs
  • NP_001395347.1:p.Leu537Tyrfs
  • NP_001395348.1:p.Leu537Tyrfs
  • NP_001395349.1:p.Leu537Tyrfs
  • NP_001395350.1:p.Leu536Tyrfs
  • NP_001395351.1:p.Leu536Tyrfs
  • NP_001395352.1:p.Leu536Tyrfs
  • NP_001395353.1:p.Leu536Tyrfs
  • NP_001395354.1:p.Leu535Tyrfs
  • NP_001395355.1:p.Leu535Tyrfs
  • NP_001395356.1:p.Leu535Tyrfs
  • NP_001395357.1:p.Leu535Tyrfs
  • NP_001395358.1:p.Leu535Tyrfs
  • NP_001395359.1:p.Leu535Tyrfs
  • NP_001395360.1:p.Leu535Tyrfs
  • NP_001395361.1:p.Leu534Tyrfs
  • NP_001395362.1:p.Leu534Tyrfs
  • NP_001395363.1:p.Leu534Tyrfs
  • NP_001395364.1:p.Leu534Tyrfs
  • NP_001395365.1:p.Leu534Tyrfs
  • NP_001395366.1:p.Leu534Tyrfs
  • NP_001395367.1:p.Leu534Tyrfs
  • NP_001395368.1:p.Leu534Tyrfs
  • NP_001395369.1:p.Leu534Tyrfs
  • NP_001395370.1:p.Leu534Tyrfs
  • NP_001395371.1:p.Leu534Tyrfs
  • NP_001395372.1:p.Leu534Tyrfs
  • NP_001395373.1:p.Leu534Tyrfs
  • NP_001395374.1:p.Leu533Tyrfs
  • NP_001395375.1:p.Leu533Tyrfs
  • NP_001395376.1:p.Leu533Tyrfs
  • NP_001395377.1:p.Leu533Tyrfs
  • NP_001395379.1:p.Leu533Tyrfs
  • NP_001395380.1:p.Leu531Tyrfs
  • NP_001395381.1:p.Leu529Tyrfs
  • NP_001395382.1:p.Leu529Tyrfs
  • NP_001395383.1:p.Leu529Tyrfs
  • NP_001395384.1:p.Leu529Tyrfs
  • NP_001395385.1:p.Leu529Tyrfs
  • NP_001395386.1:p.Leu529Tyrfs
  • NP_001395387.1:p.Leu528Tyrfs
  • NP_001395388.1:p.Leu528Tyrfs
  • NP_001395389.1:p.Leu528Tyrfs
  • NP_001395390.1:p.Leu528Tyrfs
  • NP_001395391.1:p.Leu528Tyrfs
  • NP_001395392.1:p.Leu528Tyrfs
  • NP_001395393.1:p.Leu528Tyrfs
  • NP_001395394.1:p.Leu528Tyrfs
  • NP_001395395.1:p.Leu528Tyrfs
  • NP_001395396.1:p.Leu528Tyrfs
  • NP_001395397.1:p.Leu527Tyrfs
  • NP_001395398.1:p.Leu527Tyrfs
  • NP_001395399.1:p.Leu527Tyrfs
  • NP_001395401.1:p.Leu575Tyrfs
  • NP_001395402.1:p.Leu574Tyrfs
  • NP_001395403.1:p.Leu509Tyrfs
  • NP_001395404.1:p.Leu508Tyrfs
  • NP_001395405.1:p.Leu508Tyrfs
  • NP_001395407.1:p.Leu506Tyrfs
  • NP_001395408.1:p.Leu506Tyrfs
  • NP_001395409.1:p.Leu506Tyrfs
  • NP_001395410.1:p.Leu505Tyrfs
  • NP_001395411.1:p.Leu505Tyrfs
  • NP_001395412.1:p.Leu505Tyrfs
  • NP_001395413.1:p.Leu505Tyrfs
  • NP_001395414.1:p.Leu505Tyrfs
  • NP_001395418.1:p.Leu505Tyrfs
  • NP_001395419.1:p.Leu505Tyrfs
  • NP_001395420.1:p.Leu505Tyrfs
  • NP_001395421.1:p.Leu504Tyrfs
  • NP_001395422.1:p.Leu504Tyrfs
  • NP_001395423.1:p.Leu496Tyrfs
  • NP_001395424.1:p.Leu494Tyrfs
  • NP_001395425.1:p.Leu488Tyrfs
  • NP_001395426.1:p.Leu488Tyrfs
  • NP_001395427.1:p.Leu488Tyrfs
  • NP_001395428.1:p.Leu488Tyrfs
  • NP_001395429.1:p.Leu488Tyrfs
  • NP_001395430.1:p.Leu488Tyrfs
  • NP_001395431.1:p.Leu487Tyrfs
  • NP_001395432.1:p.Leu487Tyrfs
  • NP_001395433.1:p.Leu487Tyrfs
  • NP_001395434.1:p.Leu486Tyrfs
  • NP_001395435.1:p.Leu467Tyrfs
  • NP_001395436.1:p.Leu466Tyrfs
  • NP_001395437.1:p.Leu463Tyrfs
  • NP_001395438.1:p.Leu462Tyrfs
  • NP_001395439.1:p.Leu449Tyrfs
  • NP_001395440.1:p.Leu448Tyrfs
  • NP_001395441.1:p.Leu408Tyrfs
  • NP_001395442.1:p.Leu399Tyrfs
  • NP_009225.1:p.Leu1679Tyrfs
  • NP_009225.1:p.Leu1679fs
  • NP_009228.2:p.Leu1632fs
  • NP_009229.2:p.Leu575Tyrfs
  • NP_009229.2:p.Leu575fs
  • NP_009230.2:p.Leu575fs
  • NP_009231.2:p.Leu1700fs
  • NP_009235.2:p.Leu575Tyrfs
  • LRG_292t1:c.5030_5034CTAAT[1]
  • LRG_292:g.150332CTAAT[1]
  • LRG_292p1:p.Leu1679Tyrfs
  • NC_000017.10:g.41219660ATTAG[1]
  • NC_000017.10:g.41219660_41219664del
  • NC_000017.10:g.41219660_41219664delATTAG
  • NM_007294.3:c.5030_5034CTAAT[1]
  • NM_007294.3:c.5035_5039delCTAAT
  • NM_007294.4:c.5035_5039del
  • NM_007298.3:c.1723_1727del
  • NR_027676.2:n.5207CTAAT[1]
  • U14680.1:n.5154_5158delCTAAT
  • p.Leu1679Tyrfs*2
  • p.Leu1679TyrfsX2
Nucleotide change:
5154del5
Protein change:
L1632fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5154&base_change=del CTAAT; dbSNP: rs80357623
NCBI 1000 Genomes Browser:
rs80357623
Molecular consequence:
  • NM_001407571.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5096_5100CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5096_5100CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5093_5097CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5093_5097CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5093_5097CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5090_5094CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5090_5094CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5021_5025CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5021_5025CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5018_5022CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5015_5019CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.4973_4977CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.4970_4974CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.4952_4956CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.4952_4956CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.4952_4956CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.4949_4953CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.4949_4953CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.4949_4953CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.4946_4950CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.4946_4950CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.4946_4950CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.4946_4950CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.4946_4950CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.4898_4902CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.4898_4902CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.4883_4887CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5030_5034CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5027_5031CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5024_5028CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.4829_4833CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.4823_4827CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.4823_4827CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.4820_4824CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.4817_4821CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.4814_4818CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.4814_4818CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.4814_4818CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.4814_4818CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.4766_4770CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.4766_4770CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.4766_4770CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.4766_4770CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.4766_4770CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.4766_4770CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.4766_4770CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.4763_4767CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.4763_4767CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.4763_4767CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.4763_4767CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.4763_4767CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.4763_4767CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.4763_4767CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.4760_4764CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.4760_4764CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.4760_4764CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.4907_4911CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.4904_4908CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.4901_4905CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.4889_4893CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.4886_4890CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.4697_4701CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.4697_4701CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.4697_4701CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.4697_4701CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.4694_4698CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.4694_4698CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.4694_4698CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.4694_4698CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.4694_4698CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.4694_4698CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.4691_4695CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.4691_4695CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.4691_4695CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4649_4653CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4646_4650CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4646_4650CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4643_4647CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4568_4572CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4523_4527CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4142_4146CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4139_4143CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2426_2430CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2423_2427CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.1787_1791CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.1787_1791CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.1784_1788CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.1721_1725CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.1721_1725CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.1721_1725CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.1721_1725CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.1721_1725CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.1721_1725CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.1712_1716CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.1712_1716CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.1712_1716CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.1709_1713CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1646_1650CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1643_1647CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1640_1644CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1640_1644CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1640_1644CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1640_1644CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1640_1644CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1604_1608CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1604_1608CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1604_1608CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1601_1605CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1601_1605CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1601_1605CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1601_1605CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1598_1602CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1598_1602CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1598_1602CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1598_1602CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1598_1602CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1598_1602CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1598_1602CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1595_1599CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1592_1596CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1592_1596CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1592_1596CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1592_1596CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1592_1596CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1586_1590CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1580_1584CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1580_1584CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1580_1584CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1580_1584CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1580_1584CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1580_1584CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1577_1581CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1574_1578CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1574_1578CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1574_1578CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.1715_1719CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1520_1524CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1517_1521CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1517_1521CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1511_1515CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1511_1515CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1511_1515CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1508_1512CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1505_1509CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1505_1509CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1481_1485CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1475_1479CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1457_1461CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1457_1461CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1457_1461CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1457_1461CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1457_1461CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1457_1461CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1454_1458CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1454_1458CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1454_1458CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1451_1455CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1394_1398CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1391_1395CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1382_1386CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1379_1383CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1340_1344CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1337_1341CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1217_1221CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1190_1194CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5035_5039del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.4894_4898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.1723_1727del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5098_5102del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.1718_1722CTAAT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5207CTAAT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000660952Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 30, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000905028Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 21, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular profile and clinical variables in BRCA1-positive breast cancers. A population-based study.

Musolino A, Michiara M, Bella MA, Naldi N, Zanelli P, Bortesi B, Capelletti M, Soldani L, Camisa R, Martella E, Franciosi V, Savi M, Neri TM, Ardizzoni A, Cascinu S.

Tumori. 2005 Nov-Dec;91(6):505-12.

PubMed [citation]
PMID:
16457150

Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups.

John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS.

JAMA. 2007 Dec 26;298(24):2869-76.

PubMed [citation]
PMID:
18159056
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000660952.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.5035_5039delCTAAT pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 5035 to 5039, causing a translational frameshift with a predicted alternate stop codon (p.L1679Yfs*2). Also designated as 5154del5 in some published literature, this alteration has been seen in multiple patients with breast cancer (Musolino A et al. Tumori;91(6):505-12; John EM et al. JAMA 2007 Dec;298(24):2869-76; Cruz-Correa M et al. Hered Cancer Clin Pract 2017 Jan;15:3). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Diagnostics, LLC DBA Color Health, SCV000905028.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant deletes 5 nucleotides in exon 16 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals and families affected with breast and ovarian cancer (PMID: 16457150, 17591842, 17592676, 18159056, 27062684). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 28, 2025