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NM_007294.4(BRCA1):c.4987-2A>G AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 18, 2021
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:
RCV001853015.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.4987-2A>G]

NM_007294.4(BRCA1):c.4987-2A>G

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.4987-2A>G
HGVS:
  • NC_000017.11:g.43067697T>C
  • NG_005905.2:g.150287A>G
  • NM_001407571.1:c.4774-2A>G
  • NM_001407581.1:c.5053-2A>G
  • NM_001407582.1:c.5053-2A>G
  • NM_001407583.1:c.5050-2A>G
  • NM_001407585.1:c.5050-2A>G
  • NM_001407587.1:c.5050-2A>G
  • NM_001407590.1:c.5047-2A>G
  • NM_001407591.1:c.5047-2A>G
  • NM_001407593.1:c.4987-2A>G
  • NM_001407594.1:c.4987-2A>G
  • NM_001407596.1:c.4987-2A>G
  • NM_001407597.1:c.4987-2A>G
  • NM_001407598.1:c.4987-2A>G
  • NM_001407602.1:c.4987-2A>G
  • NM_001407603.1:c.4987-2A>G
  • NM_001407605.1:c.4987-2A>G
  • NM_001407610.1:c.4984-2A>G
  • NM_001407611.1:c.4984-2A>G
  • NM_001407612.1:c.4984-2A>G
  • NM_001407613.1:c.4984-2A>G
  • NM_001407614.1:c.4984-2A>G
  • NM_001407615.1:c.4984-2A>G
  • NM_001407616.1:c.4984-2A>G
  • NM_001407617.1:c.4984-2A>G
  • NM_001407618.1:c.4984-2A>G
  • NM_001407619.1:c.4984-2A>G
  • NM_001407620.1:c.4984-2A>G
  • NM_001407621.1:c.4984-2A>G
  • NM_001407622.1:c.4984-2A>G
  • NM_001407623.1:c.4984-2A>G
  • NM_001407624.1:c.4984-2A>G
  • NM_001407625.1:c.4984-2A>G
  • NM_001407626.1:c.4984-2A>G
  • NM_001407627.1:c.4981-2A>G
  • NM_001407628.1:c.4981-2A>G
  • NM_001407629.1:c.4981-2A>G
  • NM_001407630.1:c.4981-2A>G
  • NM_001407631.1:c.4981-2A>G
  • NM_001407632.1:c.4981-2A>G
  • NM_001407633.1:c.4981-2A>G
  • NM_001407634.1:c.4981-2A>G
  • NM_001407635.1:c.4981-2A>G
  • NM_001407636.1:c.4981-2A>G
  • NM_001407637.1:c.4981-2A>G
  • NM_001407638.1:c.4981-2A>G
  • NM_001407639.1:c.4981-2A>G
  • NM_001407640.1:c.4981-2A>G
  • NM_001407641.1:c.4981-2A>G
  • NM_001407642.1:c.4981-2A>G
  • NM_001407644.1:c.4978-2A>G
  • NM_001407645.1:c.4978-2A>G
  • NM_001407646.1:c.4975-2A>G
  • NM_001407647.1:c.4972-2A>G
  • NM_001407648.1:c.4930-2A>G
  • NM_001407649.1:c.4927-2A>G
  • NM_001407652.1:c.4987-2A>G
  • NM_001407653.1:c.4909-2A>G
  • NM_001407654.1:c.4909-2A>G
  • NM_001407655.1:c.4909-2A>G
  • NM_001407656.1:c.4906-2A>G
  • NM_001407657.1:c.4906-2A>G
  • NM_001407658.1:c.4906-2A>G
  • NM_001407659.1:c.4903-2A>G
  • NM_001407660.1:c.4903-2A>G
  • NM_001407661.1:c.4903-2A>G
  • NM_001407662.1:c.4903-2A>G
  • NM_001407663.1:c.4903-2A>G
  • NM_001407664.1:c.4864-2A>G
  • NM_001407665.1:c.4864-2A>G
  • NM_001407666.1:c.4864-2A>G
  • NM_001407667.1:c.4864-2A>G
  • NM_001407668.1:c.4864-2A>G
  • NM_001407669.1:c.4864-2A>G
  • NM_001407670.1:c.4861-2A>G
  • NM_001407671.1:c.4861-2A>G
  • NM_001407672.1:c.4861-2A>G
  • NM_001407673.1:c.4861-2A>G
  • NM_001407674.1:c.4861-2A>G
  • NM_001407675.1:c.4861-2A>G
  • NM_001407676.1:c.4861-2A>G
  • NM_001407677.1:c.4861-2A>G
  • NM_001407678.1:c.4861-2A>G
  • NM_001407679.1:c.4861-2A>G
  • NM_001407680.1:c.4861-2A>G
  • NM_001407681.1:c.4858-2A>G
  • NM_001407682.1:c.4858-2A>G
  • NM_001407683.1:c.4858-2A>G
  • NM_001407684.1:c.4987-2A>G
  • NM_001407685.1:c.4858-2A>G
  • NM_001407686.1:c.4858-2A>G
  • NM_001407687.1:c.4858-2A>G
  • NM_001407688.1:c.4858-2A>G
  • NM_001407689.1:c.4858-2A>G
  • NM_001407690.1:c.4855-2A>G
  • NM_001407691.1:c.4855-2A>G
  • NM_001407692.1:c.4846-2A>G
  • NM_001407694.1:c.4846-2A>G
  • NM_001407695.1:c.4846-2A>G
  • NM_001407696.1:c.4846-2A>G
  • NM_001407697.1:c.4846-2A>G
  • NM_001407698.1:c.4846-2A>G
  • NM_001407724.1:c.4846-2A>G
  • NM_001407725.1:c.4846-2A>G
  • NM_001407726.1:c.4846-2A>G
  • NM_001407727.1:c.4846-2A>G
  • NM_001407728.1:c.4846-2A>G
  • NM_001407729.1:c.4846-2A>G
  • NM_001407730.1:c.4846-2A>G
  • NM_001407731.1:c.4846-2A>G
  • NM_001407732.1:c.4843-2A>G
  • NM_001407733.1:c.4843-2A>G
  • NM_001407734.1:c.4843-2A>G
  • NM_001407735.1:c.4843-2A>G
  • NM_001407736.1:c.4843-2A>G
  • NM_001407737.1:c.4843-2A>G
  • NM_001407738.1:c.4843-2A>G
  • NM_001407739.1:c.4843-2A>G
  • NM_001407740.1:c.4843-2A>G
  • NM_001407741.1:c.4843-2A>G
  • NM_001407742.1:c.4843-2A>G
  • NM_001407743.1:c.4843-2A>G
  • NM_001407744.1:c.4843-2A>G
  • NM_001407745.1:c.4843-2A>G
  • NM_001407746.1:c.4843-2A>G
  • NM_001407747.1:c.4843-2A>G
  • NM_001407748.1:c.4843-2A>G
  • NM_001407749.1:c.4843-2A>G
  • NM_001407750.1:c.4843-2A>G
  • NM_001407751.1:c.4843-2A>G
  • NM_001407752.1:c.4843-2A>G
  • NM_001407838.1:c.4840-2A>G
  • NM_001407839.1:c.4840-2A>G
  • NM_001407841.1:c.4840-2A>G
  • NM_001407842.1:c.4840-2A>G
  • NM_001407843.1:c.4840-2A>G
  • NM_001407844.1:c.4840-2A>G
  • NM_001407845.1:c.4840-2A>G
  • NM_001407846.1:c.4840-2A>G
  • NM_001407847.1:c.4840-2A>G
  • NM_001407848.1:c.4840-2A>G
  • NM_001407849.1:c.4840-2A>G
  • NM_001407850.1:c.4840-2A>G
  • NM_001407851.1:c.4840-2A>G
  • NM_001407852.1:c.4840-2A>G
  • NM_001407853.1:c.4840-2A>G
  • NM_001407854.1:c.4987-2A>G
  • NM_001407858.1:c.4984-2A>G
  • NM_001407859.1:c.4984-2A>G
  • NM_001407860.1:c.4984-2A>G
  • NM_001407861.1:c.4981-2A>G
  • NM_001407862.1:c.4786-2A>G
  • NM_001407863.1:c.4861-2A>G
  • NM_001407874.1:c.4780-2A>G
  • NM_001407875.1:c.4780-2A>G
  • NM_001407879.1:c.4777-2A>G
  • NM_001407881.1:c.4777-2A>G
  • NM_001407882.1:c.4777-2A>G
  • NM_001407884.1:c.4777-2A>G
  • NM_001407885.1:c.4777-2A>G
  • NM_001407886.1:c.4777-2A>G
  • NM_001407887.1:c.4777-2A>G
  • NM_001407889.1:c.4777-2A>G
  • NM_001407894.1:c.4774-2A>G
  • NM_001407895.1:c.4774-2A>G
  • NM_001407896.1:c.4774-2A>G
  • NM_001407897.1:c.4774-2A>G
  • NM_001407898.1:c.4774-2A>G
  • NM_001407899.1:c.4774-2A>G
  • NM_001407900.1:c.4774-2A>G
  • NM_001407902.1:c.4774-2A>G
  • NM_001407904.1:c.4774-2A>G
  • NM_001407906.1:c.4774-2A>G
  • NM_001407907.1:c.4774-2A>G
  • NM_001407908.1:c.4774-2A>G
  • NM_001407909.1:c.4774-2A>G
  • NM_001407910.1:c.4774-2A>G
  • NM_001407915.1:c.4771-2A>G
  • NM_001407916.1:c.4771-2A>G
  • NM_001407917.1:c.4771-2A>G
  • NM_001407918.1:c.4771-2A>G
  • NM_001407919.1:c.4864-2A>G
  • NM_001407920.1:c.4723-2A>G
  • NM_001407921.1:c.4723-2A>G
  • NM_001407922.1:c.4723-2A>G
  • NM_001407923.1:c.4723-2A>G
  • NM_001407924.1:c.4723-2A>G
  • NM_001407925.1:c.4723-2A>G
  • NM_001407926.1:c.4723-2A>G
  • NM_001407927.1:c.4720-2A>G
  • NM_001407928.1:c.4720-2A>G
  • NM_001407929.1:c.4720-2A>G
  • NM_001407930.1:c.4720-2A>G
  • NM_001407931.1:c.4720-2A>G
  • NM_001407932.1:c.4720-2A>G
  • NM_001407933.1:c.4720-2A>G
  • NM_001407934.1:c.4717-2A>G
  • NM_001407935.1:c.4717-2A>G
  • NM_001407936.1:c.4717-2A>G
  • NM_001407937.1:c.4864-2A>G
  • NM_001407938.1:c.4864-2A>G
  • NM_001407939.1:c.4861-2A>G
  • NM_001407940.1:c.4861-2A>G
  • NM_001407941.1:c.4858-2A>G
  • NM_001407942.1:c.4846-2A>G
  • NM_001407943.1:c.4843-2A>G
  • NM_001407944.1:c.4843-2A>G
  • NM_001407945.1:c.4843-2A>G
  • NM_001407946.1:c.4654-2A>G
  • NM_001407947.1:c.4654-2A>G
  • NM_001407948.1:c.4654-2A>G
  • NM_001407949.1:c.4654-2A>G
  • NM_001407950.1:c.4651-2A>G
  • NM_001407951.1:c.4651-2A>G
  • NM_001407952.1:c.4651-2A>G
  • NM_001407953.1:c.4651-2A>G
  • NM_001407954.1:c.4651-2A>G
  • NM_001407955.1:c.4651-2A>G
  • NM_001407956.1:c.4648-2A>G
  • NM_001407957.1:c.4648-2A>G
  • NM_001407958.1:c.4648-2A>G
  • NM_001407959.1:c.4606-2A>G
  • NM_001407960.1:c.4603-2A>G
  • NM_001407962.1:c.4603-2A>G
  • NM_001407963.1:c.4600-2A>G
  • NM_001407964.1:c.4525-2A>G
  • NM_001407965.1:c.4480-2A>G
  • NM_001407966.1:c.4099-2A>G
  • NM_001407967.1:c.4096-2A>G
  • NM_001407968.1:c.2383-2A>G
  • NM_001407969.1:c.2380-2A>G
  • NM_001407970.1:c.1744-2A>G
  • NM_001407971.1:c.1744-2A>G
  • NM_001407972.1:c.1741-2A>G
  • NM_001407973.1:c.1678-2A>G
  • NM_001407974.1:c.1678-2A>G
  • NM_001407975.1:c.1678-2A>G
  • NM_001407976.1:c.1678-2A>G
  • NM_001407977.1:c.1678-2A>G
  • NM_001407978.1:c.1678-2A>G
  • NM_001407979.1:c.1675-2A>G
  • NM_001407980.1:c.1675-2A>G
  • NM_001407981.1:c.1675-2A>G
  • NM_001407982.1:c.1675-2A>G
  • NM_001407983.1:c.1675-2A>G
  • NM_001407984.1:c.1675-2A>G
  • NM_001407985.1:c.1675-2A>G
  • NM_001407986.1:c.1675-2A>G
  • NM_001407990.1:c.1675-2A>G
  • NM_001407991.1:c.1675-2A>G
  • NM_001407992.1:c.1675-2A>G
  • NM_001407993.1:c.1675-2A>G
  • NM_001408392.1:c.1672-2A>G
  • NM_001408396.1:c.1672-2A>G
  • NM_001408397.1:c.1672-2A>G
  • NM_001408398.1:c.1672-2A>G
  • NM_001408399.1:c.1672-2A>G
  • NM_001408400.1:c.1672-2A>G
  • NM_001408401.1:c.1672-2A>G
  • NM_001408402.1:c.1672-2A>G
  • NM_001408403.1:c.1672-2A>G
  • NM_001408404.1:c.1672-2A>G
  • NM_001408406.1:c.1669-2A>G
  • NM_001408407.1:c.1669-2A>G
  • NM_001408408.1:c.1669-2A>G
  • NM_001408409.1:c.1666-2A>G
  • NM_001408410.1:c.1603-2A>G
  • NM_001408411.1:c.1600-2A>G
  • NM_001408412.1:c.1597-2A>G
  • NM_001408413.1:c.1597-2A>G
  • NM_001408414.1:c.1597-2A>G
  • NM_001408415.1:c.1597-2A>G
  • NM_001408416.1:c.1597-2A>G
  • NM_001408418.1:c.1561-2A>G
  • NM_001408419.1:c.1561-2A>G
  • NM_001408420.1:c.1561-2A>G
  • NM_001408421.1:c.1558-2A>G
  • NM_001408422.1:c.1558-2A>G
  • NM_001408423.1:c.1558-2A>G
  • NM_001408424.1:c.1558-2A>G
  • NM_001408425.1:c.1555-2A>G
  • NM_001408426.1:c.1555-2A>G
  • NM_001408427.1:c.1555-2A>G
  • NM_001408428.1:c.1555-2A>G
  • NM_001408429.1:c.1555-2A>G
  • NM_001408430.1:c.1555-2A>G
  • NM_001408431.1:c.1555-2A>G
  • NM_001408432.1:c.1552-2A>G
  • NM_001408433.1:c.1552-2A>G
  • NM_001408434.1:c.1552-2A>G
  • NM_001408435.1:c.1552-2A>G
  • NM_001408436.1:c.1552-2A>G
  • NM_001408437.1:c.1552-2A>G
  • NM_001408438.1:c.1552-2A>G
  • NM_001408439.1:c.1552-2A>G
  • NM_001408440.1:c.1552-2A>G
  • NM_001408441.1:c.1552-2A>G
  • NM_001408442.1:c.1552-2A>G
  • NM_001408443.1:c.1552-2A>G
  • NM_001408444.1:c.1552-2A>G
  • NM_001408445.1:c.1549-2A>G
  • NM_001408446.1:c.1549-2A>G
  • NM_001408447.1:c.1549-2A>G
  • NM_001408448.1:c.1549-2A>G
  • NM_001408450.1:c.1549-2A>G
  • NM_001408451.1:c.1543-2A>G
  • NM_001408452.1:c.1537-2A>G
  • NM_001408453.1:c.1537-2A>G
  • NM_001408454.1:c.1537-2A>G
  • NM_001408455.1:c.1537-2A>G
  • NM_001408456.1:c.1537-2A>G
  • NM_001408457.1:c.1537-2A>G
  • NM_001408458.1:c.1534-2A>G
  • NM_001408459.1:c.1534-2A>G
  • NM_001408460.1:c.1534-2A>G
  • NM_001408461.1:c.1534-2A>G
  • NM_001408462.1:c.1534-2A>G
  • NM_001408463.1:c.1534-2A>G
  • NM_001408464.1:c.1534-2A>G
  • NM_001408465.1:c.1534-2A>G
  • NM_001408466.1:c.1534-2A>G
  • NM_001408467.1:c.1534-2A>G
  • NM_001408468.1:c.1531-2A>G
  • NM_001408469.1:c.1531-2A>G
  • NM_001408470.1:c.1531-2A>G
  • NM_001408472.1:c.1675-2A>G
  • NM_001408473.1:c.1672-2A>G
  • NM_001408474.1:c.1477-2A>G
  • NM_001408475.1:c.1474-2A>G
  • NM_001408476.1:c.1474-2A>G
  • NM_001408478.1:c.1468-2A>G
  • NM_001408479.1:c.1468-2A>G
  • NM_001408480.1:c.1468-2A>G
  • NM_001408481.1:c.1465-2A>G
  • NM_001408482.1:c.1465-2A>G
  • NM_001408483.1:c.1465-2A>G
  • NM_001408484.1:c.1465-2A>G
  • NM_001408485.1:c.1465-2A>G
  • NM_001408489.1:c.1465-2A>G
  • NM_001408490.1:c.1465-2A>G
  • NM_001408491.1:c.1465-2A>G
  • NM_001408492.1:c.1462-2A>G
  • NM_001408493.1:c.1462-2A>G
  • NM_001408494.1:c.1438-2A>G
  • NM_001408495.1:c.1432-2A>G
  • NM_001408496.1:c.1414-2A>G
  • NM_001408497.1:c.1414-2A>G
  • NM_001408498.1:c.1414-2A>G
  • NM_001408499.1:c.1414-2A>G
  • NM_001408500.1:c.1414-2A>G
  • NM_001408501.1:c.1414-2A>G
  • NM_001408502.1:c.1411-2A>G
  • NM_001408503.1:c.1411-2A>G
  • NM_001408504.1:c.1411-2A>G
  • NM_001408505.1:c.1408-2A>G
  • NM_001408506.1:c.1351-2A>G
  • NM_001408507.1:c.1348-2A>G
  • NM_001408508.1:c.1339-2A>G
  • NM_001408509.1:c.1336-2A>G
  • NM_001408510.1:c.1297-2A>G
  • NM_001408511.1:c.1294-2A>G
  • NM_001408512.1:c.1174-2A>G
  • NM_001408513.1:c.1147-2A>G
  • NM_001408514.1:c.839-3746A>G
  • NM_007294.4:c.4987-2A>GMANE SELECT
  • NM_007297.4:c.4846-2A>G
  • NM_007298.4:c.1675-2A>G
  • NM_007299.4:c.1675-2A>G
  • NM_007300.4:c.5050-2A>G
  • LRG_292t1:c.4987-2A>G
  • LRG_292:g.150287A>G
  • NC_000017.10:g.41219714T>C
  • NM_007294.3:c.4987-2A>G
  • NM_007298.3:c.1675-2A>G
Links:
dbSNP: rs397509212
NCBI 1000 Genomes Browser:
rs397509212
Molecular consequence:
  • NM_001408514.1:c.839-3746A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407581.1:c.5053-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.5053-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407583.1:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407585.1:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407587.1:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407590.1:c.5047-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407591.1:c.5047-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407610.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407611.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407612.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407613.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407614.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407615.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407616.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407617.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407618.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407619.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407620.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407621.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407622.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407623.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407627.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407628.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407629.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407630.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407631.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407632.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407633.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407634.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407635.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407636.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407637.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407638.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407639.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407640.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407641.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407642.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407644.1:c.4978-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407645.1:c.4978-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.4975-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407647.1:c.4972-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.4930-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407649.1:c.4927-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407652.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.4909-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.4909-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.4909-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.4906-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407657.1:c.4906-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407658.1:c.4906-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407659.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407660.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407661.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407662.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407663.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407670.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407671.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407672.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407673.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407677.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407678.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407679.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407680.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407681.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407682.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407683.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407684.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407685.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407686.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407687.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407688.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407689.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407690.1:c.4855-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407691.1:c.4855-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407732.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407733.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407734.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407735.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407736.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407737.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407738.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407739.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407740.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407741.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407742.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407743.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407744.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407745.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407746.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407747.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407748.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407749.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407838.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407839.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407841.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407842.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407843.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407844.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407845.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407846.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407847.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407848.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407849.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407850.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407851.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407852.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407853.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407854.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407858.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407859.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407860.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407861.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.4786-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407863.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407874.1:c.4780-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407875.1:c.4780-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407894.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407895.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407896.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407897.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407898.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407899.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407900.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407902.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407904.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407906.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407915.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407916.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407917.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407918.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407919.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407927.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407928.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407929.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407930.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407931.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407932.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407934.1:c.4717-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407935.1:c.4717-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407936.1:c.4717-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407937.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407938.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407939.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407940.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407941.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407942.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407943.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407944.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407945.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407950.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407951.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407954.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407955.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407956.1:c.4648-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407957.1:c.4648-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407958.1:c.4648-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.4606-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407960.1:c.4603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407962.1:c.4603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407963.1:c.4600-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407964.1:c.4525-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.4480-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407966.1:c.4099-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407967.1:c.4096-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.2383-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.2380-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.1744-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.1744-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407972.1:c.1741-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407984.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407985.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407986.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407991.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407992.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407993.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408392.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408396.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408397.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408398.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408399.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408400.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408401.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408402.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408403.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408404.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.1669-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408407.1:c.1669-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.1669-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.1666-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.1603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.1600-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408412.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408413.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408414.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408415.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408416.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.1561-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.1561-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.1561-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408421.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408422.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408423.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408424.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408431.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408432.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408433.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408434.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408435.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408436.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408437.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408438.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408439.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408440.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408445.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408446.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408447.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408448.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408450.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408451.1:c.1543-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408458.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408459.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408460.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408461.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408462.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408463.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408464.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408465.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408468.1:c.1531-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408469.1:c.1531-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408470.1:c.1531-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408472.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408473.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.1477-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408475.1:c.1474-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408476.1:c.1474-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.1468-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.1468-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.1468-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408481.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408482.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408483.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408484.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408485.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408490.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408491.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408492.1:c.1462-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408493.1:c.1462-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.1438-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408495.1:c.1432-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.1411-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408503.1:c.1411-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408504.1:c.1411-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408505.1:c.1408-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.1351-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.1348-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408508.1:c.1339-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408509.1:c.1336-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.1297-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408511.1:c.1294-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408513.1:c.1147-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.4:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002231213Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Oct 18, 2021)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

Meyer P, Voigtlaender T, Bartram CR, Klaes R.

Hum Mutat. 2003 Sep;22(3):259.

PubMed [citation]
PMID:
12938098

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
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002231213.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

ClinVar contains an entry for this variant (Variation ID: 55345). This variant is also known as IVS16-2A>G. Disruption of this splice site has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12938098, 21769658, 29446198). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 15 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). 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: 21769658, 31131967). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that disruption of this splice site does not substantially affect BRCA1 function (PMID: 30209399).

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

Last Updated: Oct 26, 2024