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

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jan 16, 2025
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:: RCV000048742.26

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]

Observations:

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000076755	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 16, 2025)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20104584, 16457150, 17591842, 28492532
SCV000587445	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV000918793	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Nov 8, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16267036, 18159056, 18042939, 17592676 Citation Link,
SCV000967736	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Oct 19, 2018)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18159056, 27062684, 16457150, 17591842, 24033266

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

See all PubMed Citations (10)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076755.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Leu1679Tyrfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and ovarian cancer (PMID: 16457150, 17591842). This variant is also known as 5154del5. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587445.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918793.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

Variant summary: BRCA1 c.5035_5039delCTAAT (p.Leu1679TyrfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Glu1694X and p.Tyr1703X). The variant was absent in 246172 control chromosomes (gnomAD). c.5035_5039delCTAAT has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000967736.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

The p.Leu1679TyrfsX2 variant in BRCA1 has been reported in more than 10 individu als with hereditary breast and/or ovarian cancer (HBOC), as well as one young re portedly unaffected individual (<35 years old) with a family history of HBOC (Mu solino 2005, John 2007, Veschi 2007, Azzollini 2016, Breast Information Core (BI C): https://research.nhgri.nih.gov/bic/). This variant was absent from large pop ulation studies. The p.Leu1679TyrfsX2 variant is predicted to cause a frameshift , which alters the protein?s amino acid sequence beginning at position 1679 and leads to a premature termination codon 2 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss o f function of the BRCA1 gene is an established disease mechanism in individuals with HBOC. Moreover, this variant was classified as pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (SCV000282336.1). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal d ominant manner based upon presence in multiple affected individuals, absence fro m the general population, and the predicted impact on the protein. ACMG/AMP Crit eria applied: PVS1, PM2, PS4_Moderate.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: May 16, 2025

ClinVar

Relating variation to medicine