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NM_007294.4(BRCA1):c.4987-2A>G AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jun 18, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000258325.15

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)
Observations:
4

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000326096Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV001161631Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))
Pathogenic
(Jun 18, 2019)
germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001238409Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided4not providednot providednot providedclinical testing, curation
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326096.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided4not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161631.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.998471

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

From Brotman Baty Institute, University of Washington, SCV001238409.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024