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NM_007294.4(BRCA1):c.4987-2A>G AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 29, 2014
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:
RCV000212189.10

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:
7

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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    MeSH

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210191GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jul 29, 2014)
germlineclinical testing

Citation Link,

SCV000591558Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes7not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000210191.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This pathogenic variant is denoted BRCA1 c.4987-2A>G or IVS15-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 15 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. BRCA1 c.4987-2A>G, previously reported as c.5106-2A>G, has been has been reported in association with hereditary breast and ovarian cancer (Meyer 2003, Thomassen 2012). The variant was predicted by Thomassen et al. (2012) to be pathogenic based on frequency information, multifactorial analysis and splicing results indicative of exon skipping and protein truncation. Based on the current evidence, we consider BRCA1 c.4987-2A>G to be pathogenic.

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

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591558.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided7not providednot providednot provided

Last Updated: Oct 26, 2024