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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 29, 2020
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:
RCV002336187.9

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002640407Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely pathogenic
(Jun 29, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002640407.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The c.4987-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 15 in the BRCA1 gene. This nucleotide position is highly conserved in available vertebrate species. One functional study found that this nucleotide substitution is functional in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). However, this alteration was predicted to be pathogenic using a multifactorial likelihood analysis (Parsons MT et al. Hum. Mutat. 2019 09;40(9):1557-1578). Additionally, this alteration has been shown to cause aberrant splicing of exon 15 skipping, which is a NMD-prone transcript (Thomassen M et al. Breast Cancer Res. Treat. 2012 Apr;132(3):1009-23). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Oct 26, 2024