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NM_007294.4(BRCA1):c.5193+1G>A AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001053397.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.5193+1G>A]

NM_007294.4(BRCA1):c.5193+1G>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5193+1G>A
HGVS:
  • NC_000017.11:g.43063332C>T
  • NG_005905.2:g.154652G>A
  • NG_136614.1:g.454C>T
  • NM_001407571.1:c.4980+1G>A
  • NM_001407581.1:c.5259+1G>A
  • NM_001407582.1:c.5259+1G>A
  • NM_001407583.1:c.5256+1G>A
  • NM_001407585.1:c.5256+1G>A
  • NM_001407587.1:c.5256+1G>A
  • NM_001407590.1:c.5253+1G>A
  • NM_001407591.1:c.5253+1G>A
  • NM_001407593.1:c.5193+1G>A
  • NM_001407594.1:c.5193+1G>A
  • NM_001407596.1:c.5193+1G>A
  • NM_001407597.1:c.5193+1G>A
  • NM_001407598.1:c.5193+1G>A
  • NM_001407602.1:c.5193+1G>A
  • NM_001407603.1:c.5193+1G>A
  • NM_001407605.1:c.5193+1G>A
  • NM_001407610.1:c.5190+1G>A
  • NM_001407611.1:c.5190+1G>A
  • NM_001407612.1:c.5190+1G>A
  • NM_001407613.1:c.5190+1G>A
  • NM_001407614.1:c.5190+1G>A
  • NM_001407615.1:c.5190+1G>A
  • NM_001407616.1:c.5190+1G>A
  • NM_001407617.1:c.5190+1G>A
  • NM_001407618.1:c.5190+1G>A
  • NM_001407619.1:c.5190+1G>A
  • NM_001407620.1:c.5190+1G>A
  • NM_001407621.1:c.5190+1G>A
  • NM_001407622.1:c.5190+1G>A
  • NM_001407623.1:c.5190+1G>A
  • NM_001407624.1:c.5190+1G>A
  • NM_001407625.1:c.5190+1G>A
  • NM_001407626.1:c.5190+1G>A
  • NM_001407627.1:c.5187+1G>A
  • NM_001407628.1:c.5187+1G>A
  • NM_001407629.1:c.5187+1G>A
  • NM_001407630.1:c.5187+1G>A
  • NM_001407631.1:c.5187+1G>A
  • NM_001407632.1:c.5187+1G>A
  • NM_001407633.1:c.5187+1G>A
  • NM_001407634.1:c.5187+1G>A
  • NM_001407635.1:c.5187+1G>A
  • NM_001407636.1:c.5187+1G>A
  • NM_001407637.1:c.5187+1G>A
  • NM_001407638.1:c.5187+1G>A
  • NM_001407639.1:c.5187+1G>A
  • NM_001407640.1:c.5187+1G>A
  • NM_001407641.1:c.5187+1G>A
  • NM_001407642.1:c.5187+1G>A
  • NM_001407644.1:c.5184+1G>A
  • NM_001407645.1:c.5184+1G>A
  • NM_001407646.1:c.5181+1G>A
  • NM_001407647.1:c.5178+1G>A
  • NM_001407648.1:c.5136+1G>A
  • NM_001407649.1:c.5133+1G>A
  • NM_001407652.1:c.5115+1G>A
  • NM_001407653.1:c.5115+1G>A
  • NM_001407654.1:c.5115+1G>A
  • NM_001407655.1:c.5115+1G>A
  • NM_001407656.1:c.5112+1G>A
  • NM_001407657.1:c.5112+1G>A
  • NM_001407658.1:c.5112+1G>A
  • NM_001407659.1:c.5109+1G>A
  • NM_001407660.1:c.5109+1G>A
  • NM_001407661.1:c.5109+1G>A
  • NM_001407662.1:c.5109+1G>A
  • NM_001407663.1:c.5109+1G>A
  • NM_001407664.1:c.5070+1G>A
  • NM_001407665.1:c.5070+1G>A
  • NM_001407666.1:c.5070+1G>A
  • NM_001407667.1:c.5070+1G>A
  • NM_001407668.1:c.5070+1G>A
  • NM_001407669.1:c.5070+1G>A
  • NM_001407670.1:c.5067+1G>A
  • NM_001407671.1:c.5067+1G>A
  • NM_001407672.1:c.5067+1G>A
  • NM_001407673.1:c.5067+1G>A
  • NM_001407674.1:c.5067+1G>A
  • NM_001407675.1:c.5067+1G>A
  • NM_001407676.1:c.5067+1G>A
  • NM_001407677.1:c.5067+1G>A
  • NM_001407678.1:c.5067+1G>A
  • NM_001407679.1:c.5067+1G>A
  • NM_001407680.1:c.5067+1G>A
  • NM_001407681.1:c.5064+1G>A
  • NM_001407682.1:c.5064+1G>A
  • NM_001407683.1:c.5064+1G>A
  • NM_001407684.1:c.5193+1G>A
  • NM_001407685.1:c.5064+1G>A
  • NM_001407686.1:c.5064+1G>A
  • NM_001407687.1:c.5064+1G>A
  • NM_001407688.1:c.5064+1G>A
  • NM_001407689.1:c.5064+1G>A
  • NM_001407690.1:c.5061+1G>A
  • NM_001407691.1:c.5061+1G>A
  • NM_001407692.1:c.5052+1G>A
  • NM_001407694.1:c.5052+1G>A
  • NM_001407695.1:c.5052+1G>A
  • NM_001407696.1:c.5052+1G>A
  • NM_001407697.1:c.5052+1G>A
  • NM_001407698.1:c.5052+1G>A
  • NM_001407724.1:c.5052+1G>A
  • NM_001407725.1:c.5052+1G>A
  • NM_001407726.1:c.5052+1G>A
  • NM_001407727.1:c.5052+1G>A
  • NM_001407728.1:c.5052+1G>A
  • NM_001407729.1:c.5052+1G>A
  • NM_001407730.1:c.5052+1G>A
  • NM_001407731.1:c.5052+1G>A
  • NM_001407732.1:c.5049+1G>A
  • NM_001407733.1:c.5049+1G>A
  • NM_001407734.1:c.5049+1G>A
  • NM_001407735.1:c.5049+1G>A
  • NM_001407736.1:c.5049+1G>A
  • NM_001407737.1:c.5049+1G>A
  • NM_001407738.1:c.5049+1G>A
  • NM_001407739.1:c.5049+1G>A
  • NM_001407740.1:c.5049+1G>A
  • NM_001407741.1:c.5049+1G>A
  • NM_001407742.1:c.5049+1G>A
  • NM_001407743.1:c.5049+1G>A
  • NM_001407744.1:c.5049+1G>A
  • NM_001407745.1:c.5049+1G>A
  • NM_001407746.1:c.5049+1G>A
  • NM_001407747.1:c.5049+1G>A
  • NM_001407748.1:c.5049+1G>A
  • NM_001407749.1:c.5049+1G>A
  • NM_001407750.1:c.5049+1G>A
  • NM_001407751.1:c.5049+1G>A
  • NM_001407752.1:c.5049+1G>A
  • NM_001407838.1:c.5046+1G>A
  • NM_001407839.1:c.5046+1G>A
  • NM_001407841.1:c.5046+1G>A
  • NM_001407842.1:c.5046+1G>A
  • NM_001407843.1:c.5046+1G>A
  • NM_001407844.1:c.5046+1G>A
  • NM_001407845.1:c.5046+1G>A
  • NM_001407846.1:c.5046+1G>A
  • NM_001407847.1:c.5046+1G>A
  • NM_001407848.1:c.5046+1G>A
  • NM_001407849.1:c.5046+1G>A
  • NM_001407850.1:c.5046+1G>A
  • NM_001407851.1:c.5046+1G>A
  • NM_001407852.1:c.5046+1G>A
  • NM_001407853.1:c.5046+1G>A
  • NM_001407854.1:c.5193+1G>A
  • NM_001407858.1:c.5190+1G>A
  • NM_001407859.1:c.5190+1G>A
  • NM_001407860.1:c.5190+1G>A
  • NM_001407861.1:c.5187+1G>A
  • NM_001407862.1:c.4992+1G>A
  • NM_001407863.1:c.4989+1G>A
  • NM_001407874.1:c.4986+1G>A
  • NM_001407875.1:c.4986+1G>A
  • NM_001407879.1:c.4983+1G>A
  • NM_001407881.1:c.4983+1G>A
  • NM_001407882.1:c.4983+1G>A
  • NM_001407884.1:c.4983+1G>A
  • NM_001407885.1:c.4983+1G>A
  • NM_001407886.1:c.4983+1G>A
  • NM_001407887.1:c.4983+1G>A
  • NM_001407889.1:c.4983+1G>A
  • NM_001407894.1:c.4980+1G>A
  • NM_001407895.1:c.4980+1G>A
  • NM_001407896.1:c.4980+1G>A
  • NM_001407897.1:c.4980+1G>A
  • NM_001407898.1:c.4980+1G>A
  • NM_001407899.1:c.4980+1G>A
  • NM_001407900.1:c.4980+1G>A
  • NM_001407902.1:c.4980+1G>A
  • NM_001407904.1:c.4980+1G>A
  • NM_001407906.1:c.4980+1G>A
  • NM_001407907.1:c.4980+1G>A
  • NM_001407908.1:c.4980+1G>A
  • NM_001407909.1:c.4980+1G>A
  • NM_001407910.1:c.4980+1G>A
  • NM_001407915.1:c.4977+1G>A
  • NM_001407916.1:c.4977+1G>A
  • NM_001407917.1:c.4977+1G>A
  • NM_001407918.1:c.4977+1G>A
  • NM_001407919.1:c.5070+1G>A
  • NM_001407920.1:c.4929+1G>A
  • NM_001407921.1:c.4929+1G>A
  • NM_001407922.1:c.4929+1G>A
  • NM_001407923.1:c.4929+1G>A
  • NM_001407924.1:c.4929+1G>A
  • NM_001407925.1:c.4929+1G>A
  • NM_001407926.1:c.4929+1G>A
  • NM_001407927.1:c.4926+1G>A
  • NM_001407928.1:c.4926+1G>A
  • NM_001407929.1:c.4926+1G>A
  • NM_001407930.1:c.4926+1G>A
  • NM_001407931.1:c.4926+1G>A
  • NM_001407932.1:c.4926+1G>A
  • NM_001407933.1:c.4926+1G>A
  • NM_001407934.1:c.4923+1G>A
  • NM_001407935.1:c.4923+1G>A
  • NM_001407936.1:c.4923+1G>A
  • NM_001407937.1:c.5070+1G>A
  • NM_001407938.1:c.5070+1G>A
  • NM_001407939.1:c.5067+1G>A
  • NM_001407940.1:c.5067+1G>A
  • NM_001407941.1:c.5064+1G>A
  • NM_001407942.1:c.5052+1G>A
  • NM_001407943.1:c.5049+1G>A
  • NM_001407944.1:c.5049+1G>A
  • NM_001407945.1:c.5049+1G>A
  • NM_001407946.1:c.4860+1G>A
  • NM_001407947.1:c.4860+1G>A
  • NM_001407948.1:c.4860+1G>A
  • NM_001407949.1:c.4860+1G>A
  • NM_001407950.1:c.4857+1G>A
  • NM_001407951.1:c.4857+1G>A
  • NM_001407952.1:c.4857+1G>A
  • NM_001407953.1:c.4857+1G>A
  • NM_001407954.1:c.4857+1G>A
  • NM_001407955.1:c.4857+1G>A
  • NM_001407956.1:c.4854+1G>A
  • NM_001407957.1:c.4854+1G>A
  • NM_001407958.1:c.4854+1G>A
  • NM_001407959.1:c.4812+1G>A
  • NM_001407960.1:c.4809+1G>A
  • NM_001407962.1:c.4809+1G>A
  • NM_001407963.1:c.4806+1G>A
  • NM_001407964.1:c.4731+1G>A
  • NM_001407965.1:c.4686+1G>A
  • NM_001407966.1:c.4305+1G>A
  • NM_001407967.1:c.4302+1G>A
  • NM_001407968.1:c.2589+1G>A
  • NM_001407969.1:c.2586+1G>A
  • NM_001407970.1:c.1950+1G>A
  • NM_001407971.1:c.1950+1G>A
  • NM_001407972.1:c.1947+1G>A
  • NM_001407973.1:c.1884+1G>A
  • NM_001407974.1:c.1884+1G>A
  • NM_001407975.1:c.1884+1G>A
  • NM_001407976.1:c.1884+1G>A
  • NM_001407977.1:c.1884+1G>A
  • NM_001407978.1:c.1884+1G>A
  • NM_001407979.1:c.1881+1G>A
  • NM_001407980.1:c.1881+1G>A
  • NM_001407981.1:c.1881+1G>A
  • NM_001407982.1:c.1881+1G>A
  • NM_001407983.1:c.1881+1G>A
  • NM_001407984.1:c.1881+1G>A
  • NM_001407985.1:c.1881+1G>A
  • NM_001407986.1:c.1881+1G>A
  • NM_001407990.1:c.1881+1G>A
  • NM_001407991.1:c.1881+1G>A
  • NM_001407992.1:c.1881+1G>A
  • NM_001407993.1:c.1881+1G>A
  • NM_001408392.1:c.1878+1G>A
  • NM_001408396.1:c.1878+1G>A
  • NM_001408397.1:c.1878+1G>A
  • NM_001408398.1:c.1878+1G>A
  • NM_001408399.1:c.1878+1G>A
  • NM_001408400.1:c.1878+1G>A
  • NM_001408401.1:c.1878+1G>A
  • NM_001408402.1:c.1878+1G>A
  • NM_001408403.1:c.1878+1G>A
  • NM_001408404.1:c.1878+1G>A
  • NM_001408406.1:c.1875+1G>A
  • NM_001408407.1:c.1875+1G>A
  • NM_001408408.1:c.1875+1G>A
  • NM_001408409.1:c.1872+1G>A
  • NM_001408410.1:c.1809+1G>A
  • NM_001408411.1:c.1806+1G>A
  • NM_001408412.1:c.1803+1G>A
  • NM_001408413.1:c.1803+1G>A
  • NM_001408414.1:c.1803+1G>A
  • NM_001408415.1:c.1803+1G>A
  • NM_001408416.1:c.1803+1G>A
  • NM_001408418.1:c.1767+1G>A
  • NM_001408419.1:c.1767+1G>A
  • NM_001408420.1:c.1767+1G>A
  • NM_001408421.1:c.1764+1G>A
  • NM_001408422.1:c.1764+1G>A
  • NM_001408423.1:c.1764+1G>A
  • NM_001408424.1:c.1764+1G>A
  • NM_001408425.1:c.1761+1G>A
  • NM_001408426.1:c.1761+1G>A
  • NM_001408427.1:c.1761+1G>A
  • NM_001408428.1:c.1761+1G>A
  • NM_001408429.1:c.1761+1G>A
  • NM_001408430.1:c.1761+1G>A
  • NM_001408431.1:c.1761+1G>A
  • NM_001408432.1:c.1758+1G>A
  • NM_001408433.1:c.1758+1G>A
  • NM_001408434.1:c.1758+1G>A
  • NM_001408435.1:c.1758+1G>A
  • NM_001408436.1:c.1758+1G>A
  • NM_001408437.1:c.1758+1G>A
  • NM_001408438.1:c.1758+1G>A
  • NM_001408439.1:c.1758+1G>A
  • NM_001408440.1:c.1758+1G>A
  • NM_001408441.1:c.1758+1G>A
  • NM_001408442.1:c.1758+1G>A
  • NM_001408443.1:c.1758+1G>A
  • NM_001408444.1:c.1758+1G>A
  • NM_001408445.1:c.1755+1G>A
  • NM_001408446.1:c.1755+1G>A
  • NM_001408447.1:c.1755+1G>A
  • NM_001408448.1:c.1755+1G>A
  • NM_001408450.1:c.1755+1G>A
  • NM_001408451.1:c.1749+1G>A
  • NM_001408452.1:c.1743+1G>A
  • NM_001408453.1:c.1743+1G>A
  • NM_001408454.1:c.1743+1G>A
  • NM_001408455.1:c.1743+1G>A
  • NM_001408456.1:c.1743+1G>A
  • NM_001408457.1:c.1743+1G>A
  • NM_001408458.1:c.1740+1G>A
  • NM_001408459.1:c.1740+1G>A
  • NM_001408460.1:c.1740+1G>A
  • NM_001408461.1:c.1740+1G>A
  • NM_001408462.1:c.1740+1G>A
  • NM_001408463.1:c.1740+1G>A
  • NM_001408464.1:c.1740+1G>A
  • NM_001408465.1:c.1740+1G>A
  • NM_001408466.1:c.1740+1G>A
  • NM_001408467.1:c.1740+1G>A
  • NM_001408468.1:c.1737+1G>A
  • NM_001408469.1:c.1737+1G>A
  • NM_001408470.1:c.1737+1G>A
  • NM_001408472.1:c.1881+1G>A
  • NM_001408473.1:c.1878+1G>A
  • NM_001408474.1:c.1683+1G>A
  • NM_001408475.1:c.1680+1G>A
  • NM_001408476.1:c.1680+1G>A
  • NM_001408478.1:c.1674+1G>A
  • NM_001408479.1:c.1674+1G>A
  • NM_001408480.1:c.1674+1G>A
  • NM_001408481.1:c.1671+1G>A
  • NM_001408482.1:c.1671+1G>A
  • NM_001408483.1:c.1671+1G>A
  • NM_001408484.1:c.1671+1G>A
  • NM_001408485.1:c.1671+1G>A
  • NM_001408489.1:c.1671+1G>A
  • NM_001408490.1:c.1671+1G>A
  • NM_001408491.1:c.1671+1G>A
  • NM_001408492.1:c.1668+1G>A
  • NM_001408493.1:c.1668+1G>A
  • NM_001408494.1:c.1644+1G>A
  • NM_001408495.1:c.1638+1G>A
  • NM_001408496.1:c.1620+1G>A
  • NM_001408497.1:c.1620+1G>A
  • NM_001408498.1:c.1620+1G>A
  • NM_001408499.1:c.1620+1G>A
  • NM_001408500.1:c.1620+1G>A
  • NM_001408501.1:c.1620+1G>A
  • NM_001408502.1:c.1617+1G>A
  • NM_001408503.1:c.1617+1G>A
  • NM_001408504.1:c.1617+1G>A
  • NM_001408505.1:c.1614+1G>A
  • NM_001408506.1:c.1557+1G>A
  • NM_001408507.1:c.1554+1G>A
  • NM_001408508.1:c.1545+1G>A
  • NM_001408509.1:c.1542+1G>A
  • NM_001408510.1:c.1503+1G>A
  • NM_001408511.1:c.1500+1G>A
  • NM_001408512.1:c.1380+1G>A
  • NM_001408513.1:c.1353+1G>A
  • NM_001408514.1:c.957+1G>A
  • NM_007294.4:c.5193+1G>AMANE SELECT
  • NM_007297.4:c.5052+1G>A
  • NM_007298.4:c.1881+1G>A
  • NM_007299.4:c.1881+1G>A
  • NM_007300.4:c.5256+1G>A
  • LRG_292t1:c.5193+1G>A
  • LRG_292:g.154652G>A
  • NC_000017.10:g.41215349C>T
  • NM_007294.3:c.5193+1G>A
  • U14680.1:n.5312+1G>A
Nucleotide change:
IVS19+1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5312+1&base_change=G to A; dbSNP: rs80358004
NCBI 1000 Genomes Browser:
rs80358004
Molecular consequence:
  • NM_001407571.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.5259+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.5259+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.5256+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.5256+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.5256+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.5253+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.5253+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.5184+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.5184+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.5181+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.5178+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.5136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.5133+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.5115+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.5115+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.5115+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.5115+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.5112+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.5112+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.5112+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.5109+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.5109+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.5109+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.5109+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.5109+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.5061+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.5061+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.5046+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.5190+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.5187+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.4992+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.4989+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.4986+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.4986+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.4983+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.4980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.4977+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.4977+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.4977+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.4977+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.4929+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.4929+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.4929+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.4929+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.4929+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.4929+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.4929+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.4926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.4926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.4926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.4926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.4926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.4926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.4926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.4923+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.4923+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.4923+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.5070+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.5067+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.5064+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.5049+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.4860+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.4860+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.4860+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.4860+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.4857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.4857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.4857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.4857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.4857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.4857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.4854+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.4854+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.4854+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.4812+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.4809+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.4809+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.4806+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.4731+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.4686+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407966.1:c.4305+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407967.1:c.4302+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.2589+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.2586+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.1950+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.1950+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.1947+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.1875+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.1875+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.1875+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.1872+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.1809+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.1806+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.1803+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.1803+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.1803+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.1803+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.1803+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.1767+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.1767+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.1767+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.1764+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.1764+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.1764+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.1764+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.1761+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.1761+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.1761+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.1761+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.1761+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.1761+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.1761+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.1758+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.1755+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.1755+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.1755+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.1755+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.1755+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408451.1:c.1749+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.1743+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.1743+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408454.1:c.1743+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.1743+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.1743+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408457.1:c.1743+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408459.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408460.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408461.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408464.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408467.1:c.1740+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.1737+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.1737+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.1737+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.1878+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.1683+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.1680+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.1680+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.1674+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.1674+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.1674+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.1671+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.1668+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.1668+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.1644+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.1638+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408496.1:c.1620+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.1620+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408498.1:c.1620+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.1620+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.1620+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.1620+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.1617+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.1617+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.1617+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.1614+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.1557+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.1554+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.1545+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.1542+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.1503+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408511.1:c.1500+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.1380+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.1353+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408514.1:c.957+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.5193+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.5052+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1881+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.5256+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001217655Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 25, 2024) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

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
See all PubMed Citations (10)

Details of each submission

From Invitae, SCV001217655.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This sequence change affects a donor splice site in intron 18 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with personal and family history of breast and/or ovarian cancer (PMID: 25428789, 29297111, 29446198, 29487695, 30702160). This variant is also known as 5312(ivs19)(+1)G>A or IVS19+1G>A. ClinVar contains an entry for this variant (Variation ID: 96942). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 31131967). Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399). 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.

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

Last Updated: Apr 20, 2024