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NM_007294.4(BRCA1):c.5075-1G>C AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 24, 2022
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:
RCV001036909.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.5075-1G>C]

NM_007294.4(BRCA1):c.5075-1G>C

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.5075-1G>C
Other names:
IVS17-1G>C
HGVS:
  • NC_000017.11:g.43063952C>G
  • NG_005905.2:g.154032G>C
  • NM_001407571.1:c.4862-1G>C
  • NM_001407581.1:c.5141-1G>C
  • NM_001407582.1:c.5141-1G>C
  • NM_001407583.1:c.5138-1G>C
  • NM_001407585.1:c.5138-1G>C
  • NM_001407587.1:c.5138-1G>C
  • NM_001407590.1:c.5135-1G>C
  • NM_001407591.1:c.5135-1G>C
  • NM_001407593.1:c.5075-1G>C
  • NM_001407594.1:c.5075-1G>C
  • NM_001407596.1:c.5075-1G>C
  • NM_001407597.1:c.5075-1G>C
  • NM_001407598.1:c.5075-1G>C
  • NM_001407602.1:c.5075-1G>C
  • NM_001407603.1:c.5075-1G>C
  • NM_001407605.1:c.5075-1G>C
  • NM_001407610.1:c.5072-1G>C
  • NM_001407611.1:c.5072-1G>C
  • NM_001407612.1:c.5072-1G>C
  • NM_001407613.1:c.5072-1G>C
  • NM_001407614.1:c.5072-1G>C
  • NM_001407615.1:c.5072-1G>C
  • NM_001407616.1:c.5072-1G>C
  • NM_001407617.1:c.5072-1G>C
  • NM_001407618.1:c.5072-1G>C
  • NM_001407619.1:c.5072-1G>C
  • NM_001407620.1:c.5072-1G>C
  • NM_001407621.1:c.5072-1G>C
  • NM_001407622.1:c.5072-1G>C
  • NM_001407623.1:c.5072-1G>C
  • NM_001407624.1:c.5072-1G>C
  • NM_001407625.1:c.5072-1G>C
  • NM_001407626.1:c.5072-1G>C
  • NM_001407627.1:c.5069-1G>C
  • NM_001407628.1:c.5069-1G>C
  • NM_001407629.1:c.5069-1G>C
  • NM_001407630.1:c.5069-1G>C
  • NM_001407631.1:c.5069-1G>C
  • NM_001407632.1:c.5069-1G>C
  • NM_001407633.1:c.5069-1G>C
  • NM_001407634.1:c.5069-1G>C
  • NM_001407635.1:c.5069-1G>C
  • NM_001407636.1:c.5069-1G>C
  • NM_001407637.1:c.5069-1G>C
  • NM_001407638.1:c.5069-1G>C
  • NM_001407639.1:c.5069-1G>C
  • NM_001407640.1:c.5069-1G>C
  • NM_001407641.1:c.5069-1G>C
  • NM_001407642.1:c.5069-1G>C
  • NM_001407644.1:c.5066-1G>C
  • NM_001407645.1:c.5066-1G>C
  • NM_001407646.1:c.5063-1G>C
  • NM_001407647.1:c.5060-1G>C
  • NM_001407648.1:c.5018-1G>C
  • NM_001407649.1:c.5015-1G>C
  • NM_001407652.1:c.5075-579G>C
  • NM_001407653.1:c.4997-1G>C
  • NM_001407654.1:c.4997-1G>C
  • NM_001407655.1:c.4997-1G>C
  • NM_001407656.1:c.4994-1G>C
  • NM_001407657.1:c.4994-1G>C
  • NM_001407658.1:c.4994-1G>C
  • NM_001407659.1:c.4991-1G>C
  • NM_001407660.1:c.4991-1G>C
  • NM_001407661.1:c.4991-1G>C
  • NM_001407662.1:c.4991-1G>C
  • NM_001407663.1:c.4991-1G>C
  • NM_001407664.1:c.4952-1G>C
  • NM_001407665.1:c.4952-1G>C
  • NM_001407666.1:c.4952-1G>C
  • NM_001407667.1:c.4952-1G>C
  • NM_001407668.1:c.4952-1G>C
  • NM_001407669.1:c.4952-1G>C
  • NM_001407670.1:c.4949-1G>C
  • NM_001407671.1:c.4949-1G>C
  • NM_001407672.1:c.4949-1G>C
  • NM_001407673.1:c.4949-1G>C
  • NM_001407674.1:c.4949-1G>C
  • NM_001407675.1:c.4949-1G>C
  • NM_001407676.1:c.4949-1G>C
  • NM_001407677.1:c.4949-1G>C
  • NM_001407678.1:c.4949-1G>C
  • NM_001407679.1:c.4949-1G>C
  • NM_001407680.1:c.4949-1G>C
  • NM_001407681.1:c.4946-1G>C
  • NM_001407682.1:c.4946-1G>C
  • NM_001407683.1:c.4946-1G>C
  • NM_001407684.1:c.5075-1G>C
  • NM_001407685.1:c.4946-1G>C
  • NM_001407686.1:c.4946-1G>C
  • NM_001407687.1:c.4946-1G>C
  • NM_001407688.1:c.4946-1G>C
  • NM_001407689.1:c.4946-1G>C
  • NM_001407690.1:c.4943-1G>C
  • NM_001407691.1:c.4943-1G>C
  • NM_001407692.1:c.4934-1G>C
  • NM_001407694.1:c.4934-1G>C
  • NM_001407695.1:c.4934-1G>C
  • NM_001407696.1:c.4934-1G>C
  • NM_001407697.1:c.4934-1G>C
  • NM_001407698.1:c.4934-1G>C
  • NM_001407724.1:c.4934-1G>C
  • NM_001407725.1:c.4934-1G>C
  • NM_001407726.1:c.4934-1G>C
  • NM_001407727.1:c.4934-1G>C
  • NM_001407728.1:c.4934-1G>C
  • NM_001407729.1:c.4934-1G>C
  • NM_001407730.1:c.4934-1G>C
  • NM_001407731.1:c.4934-1G>C
  • NM_001407732.1:c.4931-1G>C
  • NM_001407733.1:c.4931-1G>C
  • NM_001407734.1:c.4931-1G>C
  • NM_001407735.1:c.4931-1G>C
  • NM_001407736.1:c.4931-1G>C
  • NM_001407737.1:c.4931-1G>C
  • NM_001407738.1:c.4931-1G>C
  • NM_001407739.1:c.4931-1G>C
  • NM_001407740.1:c.4931-1G>C
  • NM_001407741.1:c.4931-1G>C
  • NM_001407742.1:c.4931-1G>C
  • NM_001407743.1:c.4931-1G>C
  • NM_001407744.1:c.4931-1G>C
  • NM_001407745.1:c.4931-1G>C
  • NM_001407746.1:c.4931-1G>C
  • NM_001407747.1:c.4931-1G>C
  • NM_001407748.1:c.4931-1G>C
  • NM_001407749.1:c.4931-1G>C
  • NM_001407750.1:c.4931-1G>C
  • NM_001407751.1:c.4931-1G>C
  • NM_001407752.1:c.4931-1G>C
  • NM_001407838.1:c.4928-1G>C
  • NM_001407839.1:c.4928-1G>C
  • NM_001407841.1:c.4928-1G>C
  • NM_001407842.1:c.4928-1G>C
  • NM_001407843.1:c.4928-1G>C
  • NM_001407844.1:c.4928-1G>C
  • NM_001407845.1:c.4928-1G>C
  • NM_001407846.1:c.4928-1G>C
  • NM_001407847.1:c.4928-1G>C
  • NM_001407848.1:c.4928-1G>C
  • NM_001407849.1:c.4928-1G>C
  • NM_001407850.1:c.4928-1G>C
  • NM_001407851.1:c.4928-1G>C
  • NM_001407852.1:c.4928-1G>C
  • NM_001407853.1:c.4928-1G>C
  • NM_001407854.1:c.5075-1G>C
  • NM_001407858.1:c.5072-1G>C
  • NM_001407859.1:c.5072-1G>C
  • NM_001407860.1:c.5072-1G>C
  • NM_001407861.1:c.5069-1G>C
  • NM_001407862.1:c.4874-1G>C
  • NM_001407863.1:c.4949-579G>C
  • NM_001407874.1:c.4868-1G>C
  • NM_001407875.1:c.4868-1G>C
  • NM_001407879.1:c.4865-1G>C
  • NM_001407881.1:c.4865-1G>C
  • NM_001407882.1:c.4865-1G>C
  • NM_001407884.1:c.4865-1G>C
  • NM_001407885.1:c.4865-1G>C
  • NM_001407886.1:c.4865-1G>C
  • NM_001407887.1:c.4865-1G>C
  • NM_001407889.1:c.4865-1G>C
  • NM_001407894.1:c.4862-1G>C
  • NM_001407895.1:c.4862-1G>C
  • NM_001407896.1:c.4862-1G>C
  • NM_001407897.1:c.4862-1G>C
  • NM_001407898.1:c.4862-1G>C
  • NM_001407899.1:c.4862-1G>C
  • NM_001407900.1:c.4862-1G>C
  • NM_001407902.1:c.4862-1G>C
  • NM_001407904.1:c.4862-1G>C
  • NM_001407906.1:c.4862-1G>C
  • NM_001407907.1:c.4862-1G>C
  • NM_001407908.1:c.4862-1G>C
  • NM_001407909.1:c.4862-1G>C
  • NM_001407910.1:c.4862-1G>C
  • NM_001407915.1:c.4859-1G>C
  • NM_001407916.1:c.4859-1G>C
  • NM_001407917.1:c.4859-1G>C
  • NM_001407918.1:c.4859-1G>C
  • NM_001407919.1:c.4952-1G>C
  • NM_001407920.1:c.4811-1G>C
  • NM_001407921.1:c.4811-1G>C
  • NM_001407922.1:c.4811-1G>C
  • NM_001407923.1:c.4811-1G>C
  • NM_001407924.1:c.4811-1G>C
  • NM_001407925.1:c.4811-1G>C
  • NM_001407926.1:c.4811-1G>C
  • NM_001407927.1:c.4808-1G>C
  • NM_001407928.1:c.4808-1G>C
  • NM_001407929.1:c.4808-1G>C
  • NM_001407930.1:c.4808-1G>C
  • NM_001407931.1:c.4808-1G>C
  • NM_001407932.1:c.4808-1G>C
  • NM_001407933.1:c.4808-1G>C
  • NM_001407934.1:c.4805-1G>C
  • NM_001407935.1:c.4805-1G>C
  • NM_001407936.1:c.4805-1G>C
  • NM_001407937.1:c.4952-1G>C
  • NM_001407938.1:c.4952-1G>C
  • NM_001407939.1:c.4949-1G>C
  • NM_001407940.1:c.4949-1G>C
  • NM_001407941.1:c.4946-1G>C
  • NM_001407942.1:c.4934-1G>C
  • NM_001407943.1:c.4931-1G>C
  • NM_001407944.1:c.4931-1G>C
  • NM_001407945.1:c.4931-1G>C
  • NM_001407946.1:c.4742-1G>C
  • NM_001407947.1:c.4742-1G>C
  • NM_001407948.1:c.4742-1G>C
  • NM_001407949.1:c.4742-1G>C
  • NM_001407950.1:c.4739-1G>C
  • NM_001407951.1:c.4739-1G>C
  • NM_001407952.1:c.4739-1G>C
  • NM_001407953.1:c.4739-1G>C
  • NM_001407954.1:c.4739-1G>C
  • NM_001407955.1:c.4739-1G>C
  • NM_001407956.1:c.4736-1G>C
  • NM_001407957.1:c.4736-1G>C
  • NM_001407958.1:c.4736-1G>C
  • NM_001407959.1:c.4694-1G>C
  • NM_001407960.1:c.4691-1G>C
  • NM_001407962.1:c.4691-1G>C
  • NM_001407963.1:c.4688-1G>C
  • NM_001407964.1:c.4613-1G>C
  • NM_001407965.1:c.4568-1G>C
  • NM_001407966.1:c.4187-1G>C
  • NM_001407967.1:c.4184-1G>C
  • NM_001407968.1:c.2471-1G>C
  • NM_001407969.1:c.2468-1G>C
  • NM_001407970.1:c.1832-1G>C
  • NM_001407971.1:c.1832-1G>C
  • NM_001407972.1:c.1829-1G>C
  • NM_001407973.1:c.1766-1G>C
  • NM_001407974.1:c.1766-1G>C
  • NM_001407975.1:c.1766-1G>C
  • NM_001407976.1:c.1766-1G>C
  • NM_001407977.1:c.1766-1G>C
  • NM_001407978.1:c.1766-1G>C
  • NM_001407979.1:c.1763-1G>C
  • NM_001407980.1:c.1763-1G>C
  • NM_001407981.1:c.1763-1G>C
  • NM_001407982.1:c.1763-1G>C
  • NM_001407983.1:c.1763-1G>C
  • NM_001407984.1:c.1763-1G>C
  • NM_001407985.1:c.1763-1G>C
  • NM_001407986.1:c.1763-1G>C
  • NM_001407990.1:c.1763-1G>C
  • NM_001407991.1:c.1763-1G>C
  • NM_001407992.1:c.1763-1G>C
  • NM_001407993.1:c.1763-1G>C
  • NM_001408392.1:c.1760-1G>C
  • NM_001408396.1:c.1760-1G>C
  • NM_001408397.1:c.1760-1G>C
  • NM_001408398.1:c.1760-1G>C
  • NM_001408399.1:c.1760-1G>C
  • NM_001408400.1:c.1760-1G>C
  • NM_001408401.1:c.1760-1G>C
  • NM_001408402.1:c.1760-1G>C
  • NM_001408403.1:c.1760-1G>C
  • NM_001408404.1:c.1760-1G>C
  • NM_001408406.1:c.1757-1G>C
  • NM_001408407.1:c.1757-1G>C
  • NM_001408408.1:c.1757-1G>C
  • NM_001408409.1:c.1754-1G>C
  • NM_001408410.1:c.1691-1G>C
  • NM_001408411.1:c.1688-1G>C
  • NM_001408412.1:c.1685-1G>C
  • NM_001408413.1:c.1685-1G>C
  • NM_001408414.1:c.1685-1G>C
  • NM_001408415.1:c.1685-1G>C
  • NM_001408416.1:c.1685-1G>C
  • NM_001408418.1:c.1649-1G>C
  • NM_001408419.1:c.1649-1G>C
  • NM_001408420.1:c.1649-1G>C
  • NM_001408421.1:c.1646-1G>C
  • NM_001408422.1:c.1646-1G>C
  • NM_001408423.1:c.1646-1G>C
  • NM_001408424.1:c.1646-1G>C
  • NM_001408425.1:c.1643-1G>C
  • NM_001408426.1:c.1643-1G>C
  • NM_001408427.1:c.1643-1G>C
  • NM_001408428.1:c.1643-1G>C
  • NM_001408429.1:c.1643-1G>C
  • NM_001408430.1:c.1643-1G>C
  • NM_001408431.1:c.1643-1G>C
  • NM_001408432.1:c.1640-1G>C
  • NM_001408433.1:c.1640-1G>C
  • NM_001408434.1:c.1640-1G>C
  • NM_001408435.1:c.1640-1G>C
  • NM_001408436.1:c.1640-1G>C
  • NM_001408437.1:c.1640-1G>C
  • NM_001408438.1:c.1640-1G>C
  • NM_001408439.1:c.1640-1G>C
  • NM_001408440.1:c.1640-1G>C
  • NM_001408441.1:c.1640-1G>C
  • NM_001408442.1:c.1640-1G>C
  • NM_001408443.1:c.1640-1G>C
  • NM_001408444.1:c.1640-1G>C
  • NM_001408445.1:c.1637-1G>C
  • NM_001408446.1:c.1637-1G>C
  • NM_001408447.1:c.1637-1G>C
  • NM_001408448.1:c.1637-1G>C
  • NM_001408450.1:c.1637-1G>C
  • NM_001408451.1:c.1631-1G>C
  • NM_001408452.1:c.1625-1G>C
  • NM_001408453.1:c.1625-1G>C
  • NM_001408454.1:c.1625-1G>C
  • NM_001408455.1:c.1625-1G>C
  • NM_001408456.1:c.1625-1G>C
  • NM_001408457.1:c.1625-1G>C
  • NM_001408458.1:c.1622-1G>C
  • NM_001408459.1:c.1622-1G>C
  • NM_001408460.1:c.1622-1G>C
  • NM_001408461.1:c.1622-1G>C
  • NM_001408462.1:c.1622-1G>C
  • NM_001408463.1:c.1622-1G>C
  • NM_001408464.1:c.1622-1G>C
  • NM_001408465.1:c.1622-1G>C
  • NM_001408466.1:c.1622-1G>C
  • NM_001408467.1:c.1622-1G>C
  • NM_001408468.1:c.1619-1G>C
  • NM_001408469.1:c.1619-1G>C
  • NM_001408470.1:c.1619-1G>C
  • NM_001408472.1:c.1763-1G>C
  • NM_001408473.1:c.1760-1G>C
  • NM_001408474.1:c.1565-1G>C
  • NM_001408475.1:c.1562-1G>C
  • NM_001408476.1:c.1562-1G>C
  • NM_001408478.1:c.1556-1G>C
  • NM_001408479.1:c.1556-1G>C
  • NM_001408480.1:c.1556-1G>C
  • NM_001408481.1:c.1553-1G>C
  • NM_001408482.1:c.1553-1G>C
  • NM_001408483.1:c.1553-1G>C
  • NM_001408484.1:c.1553-1G>C
  • NM_001408485.1:c.1553-1G>C
  • NM_001408489.1:c.1553-1G>C
  • NM_001408490.1:c.1553-1G>C
  • NM_001408491.1:c.1553-1G>C
  • NM_001408492.1:c.1550-1G>C
  • NM_001408493.1:c.1550-1G>C
  • NM_001408494.1:c.1526-1G>C
  • NM_001408495.1:c.1520-1G>C
  • NM_001408496.1:c.1502-1G>C
  • NM_001408497.1:c.1502-1G>C
  • NM_001408498.1:c.1502-1G>C
  • NM_001408499.1:c.1502-1G>C
  • NM_001408500.1:c.1502-1G>C
  • NM_001408501.1:c.1502-1G>C
  • NM_001408502.1:c.1499-1G>C
  • NM_001408503.1:c.1499-1G>C
  • NM_001408504.1:c.1499-1G>C
  • NM_001408505.1:c.1496-1G>C
  • NM_001408506.1:c.1439-1G>C
  • NM_001408507.1:c.1436-1G>C
  • NM_001408508.1:c.1427-1G>C
  • NM_001408509.1:c.1424-1G>C
  • NM_001408510.1:c.1385-1G>C
  • NM_001408511.1:c.1382-1G>C
  • NM_001408512.1:c.1262-1G>C
  • NM_001408513.1:c.1235-1G>C
  • NM_001408514.1:c.839-1G>C
  • NM_007294.4:c.5075-1G>CMANE SELECT
  • NM_007297.4:c.4934-1G>C
  • NM_007298.4:c.1763-1G>C
  • NM_007299.4:c.1763-1G>C
  • NM_007300.4:c.5138-1G>C
  • LRG_292t1:c.5075-1G>C
  • LRG_292:g.154032G>C
  • NC_000017.10:g.41215969C>G
  • NM_007294.3:c.5075-1G>C
  • U14680.1:n.5194-1G>C
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5194-1&base_change=G to C; dbSNP: rs1800747
NCBI 1000 Genomes Browser:
rs1800747
Molecular consequence:
  • NM_001407652.1:c.5075-579G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4949-579G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407581.1:c.5141-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.5141-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407583.1:c.5138-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407585.1:c.5138-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407587.1:c.5138-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407590.1:c.5135-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407591.1:c.5135-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407610.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407611.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407612.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407613.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407614.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407615.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407616.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407617.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407618.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407619.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407620.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407621.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407622.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407623.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407627.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407628.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407629.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407630.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407631.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407632.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407633.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407634.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407635.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407636.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407637.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407638.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407639.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407640.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407641.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407642.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407644.1:c.5066-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407645.1:c.5066-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.5063-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407647.1:c.5060-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.5018-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407649.1:c.5015-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.4997-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.4997-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.4997-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.4994-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407657.1:c.4994-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407658.1:c.4994-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407659.1:c.4991-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407660.1:c.4991-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407661.1:c.4991-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407662.1:c.4991-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407663.1:c.4991-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407670.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407671.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407672.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407673.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407677.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407678.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407679.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407680.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407681.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407682.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407683.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407684.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407685.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407686.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407687.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407688.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407689.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407690.1:c.4943-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407691.1:c.4943-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407732.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407733.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407734.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407735.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407736.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407737.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407738.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407739.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407740.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407741.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407742.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407743.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407744.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407745.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407746.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407747.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407748.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407749.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407838.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407839.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407841.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407842.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407843.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407844.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407845.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407846.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407847.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407848.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407849.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407850.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407851.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407852.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407853.1:c.4928-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407854.1:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407858.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407859.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407860.1:c.5072-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407861.1:c.5069-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.4874-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407874.1:c.4868-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407875.1:c.4868-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.4865-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407894.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407895.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407896.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407897.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407898.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407899.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407900.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407902.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407904.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407906.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.4862-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407915.1:c.4859-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407916.1:c.4859-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407917.1:c.4859-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407918.1:c.4859-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407919.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.4811-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.4811-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.4811-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.4811-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.4811-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.4811-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.4811-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407927.1:c.4808-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407928.1:c.4808-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407929.1:c.4808-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407930.1:c.4808-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407931.1:c.4808-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407932.1:c.4808-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.4808-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407934.1:c.4805-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407935.1:c.4805-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407936.1:c.4805-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407937.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407938.1:c.4952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407939.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407940.1:c.4949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407941.1:c.4946-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407942.1:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407943.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407944.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407945.1:c.4931-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.4742-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.4742-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.4742-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.4742-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407950.1:c.4739-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407951.1:c.4739-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.4739-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.4739-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407954.1:c.4739-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407955.1:c.4739-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407956.1:c.4736-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407957.1:c.4736-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407958.1:c.4736-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.4694-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407960.1:c.4691-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407962.1:c.4691-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407963.1:c.4688-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407964.1:c.4613-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.4568-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407966.1:c.4187-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407967.1:c.4184-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.2471-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.2468-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.1832-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.1832-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407972.1:c.1829-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.1766-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.1766-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.1766-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.1766-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.1766-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.1766-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407984.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407985.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407986.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407991.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407992.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407993.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408392.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408396.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408397.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408398.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408399.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408400.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408401.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408402.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408403.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408404.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.1757-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408407.1:c.1757-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.1757-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.1754-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.1691-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.1688-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408412.1:c.1685-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408413.1:c.1685-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408414.1:c.1685-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408415.1:c.1685-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408416.1:c.1685-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.1649-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.1649-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.1649-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408421.1:c.1646-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408422.1:c.1646-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408423.1:c.1646-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408424.1:c.1646-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.1643-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.1643-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.1643-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.1643-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.1643-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.1643-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408431.1:c.1643-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408432.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408433.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408434.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408435.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408436.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408437.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408438.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408439.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408440.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.1640-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408445.1:c.1637-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408446.1:c.1637-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408447.1:c.1637-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408448.1:c.1637-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408450.1:c.1637-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408451.1:c.1631-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.1625-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.1625-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.1625-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.1625-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.1625-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.1625-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408458.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408459.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408460.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408461.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408462.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408463.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408464.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408465.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.1622-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408468.1:c.1619-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408469.1:c.1619-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408470.1:c.1619-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408472.1:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408473.1:c.1760-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.1565-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408475.1:c.1562-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408476.1:c.1562-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.1556-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.1556-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.1556-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408481.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408482.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408483.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408484.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408485.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408490.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408491.1:c.1553-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408492.1:c.1550-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408493.1:c.1550-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.1526-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408495.1:c.1520-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.1502-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.1502-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.1502-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.1502-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.1502-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.1502-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.1499-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408503.1:c.1499-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408504.1:c.1499-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408505.1:c.1496-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.1439-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.1436-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408508.1:c.1427-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408509.1:c.1424-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.1385-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408511.1:c.1382-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.1262-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408513.1:c.1235-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408514.1:c.839-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.5075-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.4934-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.4:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.1763-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.5138-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
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
SCV001200297Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 24, 2022) 		germlineclinical testing

PubMed (9)
[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

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276
See all PubMed Citations (9)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001200297.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

Disruption of this splice site has been observed in individual(s) with a personal and/or family history of breast and ovarian cancer (PMID: 29446198, 30287823). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 16 of the BRCA1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. ClinVar contains an entry for this variant (Variation ID: 125759). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BRCA1 protein in which other variant(s) (p.Arg1699Trp, p.Leu1705Pro) have been determined to be pathogenic (PMID: 10811118, 11157798, 21473589, 26951538, 30209399; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Studies have shown that disruption of this splice site results in skipping of exon 17 (also known as exon 18), but is expected to preserve the integrity of the reading-frame (PMID: 24667779). Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant.

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

Last Updated: Nov 3, 2024