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 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.4987-2A>G, a CANONICAL SPLICE variant, produced a function score of 0.3, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
- Observations:
- 7
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Vitamin A Deficiency
Vitamin A DeficiencyA nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva ...<br/>MeSH
-
D014802 (1)
MeSH
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000210191 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Pathogenic (Jul 29, 2014) | germline | clinical testing | |
| SCV000591558 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Uncertain significance | unknown | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | unknown | yes | 7 | not provided | not provided | not provided | not provided | clinical testing |
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV000210191.9
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not 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.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591558.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 7 | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | yes | not provided | not provided | not provided | 7 | not provided | not provided | not provided | |
Last Updated: Oct 26, 2024