NM_007294.4(BRCA1):c.4987-2A>G AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 29, 2020
- Review status:
- 1 star out of maximum of 4 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:
- RCV002336187.9
Allele description [Variation Report for NM_007294.4(BRCA1):c.4987-2A>G]
NM_007294.4(BRCA1):c.4987-2A>G
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4987-2A>G
- HGVS:
- NC_000017.11:g.43067697T>C
- NG_005905.2:g.150287A>G
- NM_001407571.1:c.4774-2A>G
- NM_001407581.1:c.5053-2A>G
- NM_001407582.1:c.5053-2A>G
- NM_001407583.1:c.5050-2A>G
- NM_001407585.1:c.5050-2A>G
- NM_001407587.1:c.5050-2A>G
- NM_001407590.1:c.5047-2A>G
- NM_001407591.1:c.5047-2A>G
- NM_001407593.1:c.4987-2A>G
- NM_001407594.1:c.4987-2A>G
- NM_001407596.1:c.4987-2A>G
- NM_001407597.1:c.4987-2A>G
- NM_001407598.1:c.4987-2A>G
- NM_001407602.1:c.4987-2A>G
- NM_001407603.1:c.4987-2A>G
- NM_001407605.1:c.4987-2A>G
- NM_001407610.1:c.4984-2A>G
- NM_001407611.1:c.4984-2A>G
- NM_001407612.1:c.4984-2A>G
- NM_001407613.1:c.4984-2A>G
- NM_001407614.1:c.4984-2A>G
- NM_001407615.1:c.4984-2A>G
- NM_001407616.1:c.4984-2A>G
- NM_001407617.1:c.4984-2A>G
- NM_001407618.1:c.4984-2A>G
- NM_001407619.1:c.4984-2A>G
- NM_001407620.1:c.4984-2A>G
- NM_001407621.1:c.4984-2A>G
- NM_001407622.1:c.4984-2A>G
- NM_001407623.1:c.4984-2A>G
- NM_001407624.1:c.4984-2A>G
- NM_001407625.1:c.4984-2A>G
- NM_001407626.1:c.4984-2A>G
- NM_001407627.1:c.4981-2A>G
- NM_001407628.1:c.4981-2A>G
- NM_001407629.1:c.4981-2A>G
- NM_001407630.1:c.4981-2A>G
- NM_001407631.1:c.4981-2A>G
- NM_001407632.1:c.4981-2A>G
- NM_001407633.1:c.4981-2A>G
- NM_001407634.1:c.4981-2A>G
- NM_001407635.1:c.4981-2A>G
- NM_001407636.1:c.4981-2A>G
- NM_001407637.1:c.4981-2A>G
- NM_001407638.1:c.4981-2A>G
- NM_001407639.1:c.4981-2A>G
- NM_001407640.1:c.4981-2A>G
- NM_001407641.1:c.4981-2A>G
- NM_001407642.1:c.4981-2A>G
- NM_001407644.1:c.4978-2A>G
- NM_001407645.1:c.4978-2A>G
- NM_001407646.1:c.4975-2A>G
- NM_001407647.1:c.4972-2A>G
- NM_001407648.1:c.4930-2A>G
- NM_001407649.1:c.4927-2A>G
- NM_001407652.1:c.4987-2A>G
- NM_001407653.1:c.4909-2A>G
- NM_001407654.1:c.4909-2A>G
- NM_001407655.1:c.4909-2A>G
- NM_001407656.1:c.4906-2A>G
- NM_001407657.1:c.4906-2A>G
- NM_001407658.1:c.4906-2A>G
- NM_001407659.1:c.4903-2A>G
- NM_001407660.1:c.4903-2A>G
- NM_001407661.1:c.4903-2A>G
- NM_001407662.1:c.4903-2A>G
- NM_001407663.1:c.4903-2A>G
- NM_001407664.1:c.4864-2A>G
- NM_001407665.1:c.4864-2A>G
- NM_001407666.1:c.4864-2A>G
- NM_001407667.1:c.4864-2A>G
- NM_001407668.1:c.4864-2A>G
- NM_001407669.1:c.4864-2A>G
- NM_001407670.1:c.4861-2A>G
- NM_001407671.1:c.4861-2A>G
- NM_001407672.1:c.4861-2A>G
- NM_001407673.1:c.4861-2A>G
- NM_001407674.1:c.4861-2A>G
- NM_001407675.1:c.4861-2A>G
- NM_001407676.1:c.4861-2A>G
- NM_001407677.1:c.4861-2A>G
- NM_001407678.1:c.4861-2A>G
- NM_001407679.1:c.4861-2A>G
- NM_001407680.1:c.4861-2A>G
- NM_001407681.1:c.4858-2A>G
- NM_001407682.1:c.4858-2A>G
- NM_001407683.1:c.4858-2A>G
- NM_001407684.1:c.4987-2A>G
- NM_001407685.1:c.4858-2A>G
- NM_001407686.1:c.4858-2A>G
- NM_001407687.1:c.4858-2A>G
- NM_001407688.1:c.4858-2A>G
- NM_001407689.1:c.4858-2A>G
- NM_001407690.1:c.4855-2A>G
- NM_001407691.1:c.4855-2A>G
- NM_001407692.1:c.4846-2A>G
- NM_001407694.1:c.4846-2A>G
- NM_001407695.1:c.4846-2A>G
- NM_001407696.1:c.4846-2A>G
- NM_001407697.1:c.4846-2A>G
- NM_001407698.1:c.4846-2A>G
- NM_001407724.1:c.4846-2A>G
- NM_001407725.1:c.4846-2A>G
- NM_001407726.1:c.4846-2A>G
- NM_001407727.1:c.4846-2A>G
- NM_001407728.1:c.4846-2A>G
- NM_001407729.1:c.4846-2A>G
- NM_001407730.1:c.4846-2A>G
- NM_001407731.1:c.4846-2A>G
- NM_001407732.1:c.4843-2A>G
- NM_001407733.1:c.4843-2A>G
- NM_001407734.1:c.4843-2A>G
- NM_001407735.1:c.4843-2A>G
- NM_001407736.1:c.4843-2A>G
- NM_001407737.1:c.4843-2A>G
- NM_001407738.1:c.4843-2A>G
- NM_001407739.1:c.4843-2A>G
- NM_001407740.1:c.4843-2A>G
- NM_001407741.1:c.4843-2A>G
- NM_001407742.1:c.4843-2A>G
- NM_001407743.1:c.4843-2A>G
- NM_001407744.1:c.4843-2A>G
- NM_001407745.1:c.4843-2A>G
- NM_001407746.1:c.4843-2A>G
- NM_001407747.1:c.4843-2A>G
- NM_001407748.1:c.4843-2A>G
- NM_001407749.1:c.4843-2A>G
- NM_001407750.1:c.4843-2A>G
- NM_001407751.1:c.4843-2A>G
- NM_001407752.1:c.4843-2A>G
- NM_001407838.1:c.4840-2A>G
- NM_001407839.1:c.4840-2A>G
- NM_001407841.1:c.4840-2A>G
- NM_001407842.1:c.4840-2A>G
- NM_001407843.1:c.4840-2A>G
- NM_001407844.1:c.4840-2A>G
- NM_001407845.1:c.4840-2A>G
- NM_001407846.1:c.4840-2A>G
- NM_001407847.1:c.4840-2A>G
- NM_001407848.1:c.4840-2A>G
- NM_001407849.1:c.4840-2A>G
- NM_001407850.1:c.4840-2A>G
- NM_001407851.1:c.4840-2A>G
- NM_001407852.1:c.4840-2A>G
- NM_001407853.1:c.4840-2A>G
- NM_001407854.1:c.4987-2A>G
- NM_001407858.1:c.4984-2A>G
- NM_001407859.1:c.4984-2A>G
- NM_001407860.1:c.4984-2A>G
- NM_001407861.1:c.4981-2A>G
- NM_001407862.1:c.4786-2A>G
- NM_001407863.1:c.4861-2A>G
- NM_001407874.1:c.4780-2A>G
- NM_001407875.1:c.4780-2A>G
- NM_001407879.1:c.4777-2A>G
- NM_001407881.1:c.4777-2A>G
- NM_001407882.1:c.4777-2A>G
- NM_001407884.1:c.4777-2A>G
- NM_001407885.1:c.4777-2A>G
- NM_001407886.1:c.4777-2A>G
- NM_001407887.1:c.4777-2A>G
- NM_001407889.1:c.4777-2A>G
- NM_001407894.1:c.4774-2A>G
- NM_001407895.1:c.4774-2A>G
- NM_001407896.1:c.4774-2A>G
- NM_001407897.1:c.4774-2A>G
- NM_001407898.1:c.4774-2A>G
- NM_001407899.1:c.4774-2A>G
- NM_001407900.1:c.4774-2A>G
- NM_001407902.1:c.4774-2A>G
- NM_001407904.1:c.4774-2A>G
- NM_001407906.1:c.4774-2A>G
- NM_001407907.1:c.4774-2A>G
- NM_001407908.1:c.4774-2A>G
- NM_001407909.1:c.4774-2A>G
- NM_001407910.1:c.4774-2A>G
- NM_001407915.1:c.4771-2A>G
- NM_001407916.1:c.4771-2A>G
- NM_001407917.1:c.4771-2A>G
- NM_001407918.1:c.4771-2A>G
- NM_001407919.1:c.4864-2A>G
- NM_001407920.1:c.4723-2A>G
- NM_001407921.1:c.4723-2A>G
- NM_001407922.1:c.4723-2A>G
- NM_001407923.1:c.4723-2A>G
- NM_001407924.1:c.4723-2A>G
- NM_001407925.1:c.4723-2A>G
- NM_001407926.1:c.4723-2A>G
- NM_001407927.1:c.4720-2A>G
- NM_001407928.1:c.4720-2A>G
- NM_001407929.1:c.4720-2A>G
- NM_001407930.1:c.4720-2A>G
- NM_001407931.1:c.4720-2A>G
- NM_001407932.1:c.4720-2A>G
- NM_001407933.1:c.4720-2A>G
- NM_001407934.1:c.4717-2A>G
- NM_001407935.1:c.4717-2A>G
- NM_001407936.1:c.4717-2A>G
- NM_001407937.1:c.4864-2A>G
- NM_001407938.1:c.4864-2A>G
- NM_001407939.1:c.4861-2A>G
- NM_001407940.1:c.4861-2A>G
- NM_001407941.1:c.4858-2A>G
- NM_001407942.1:c.4846-2A>G
- NM_001407943.1:c.4843-2A>G
- NM_001407944.1:c.4843-2A>G
- NM_001407945.1:c.4843-2A>G
- NM_001407946.1:c.4654-2A>G
- NM_001407947.1:c.4654-2A>G
- NM_001407948.1:c.4654-2A>G
- NM_001407949.1:c.4654-2A>G
- NM_001407950.1:c.4651-2A>G
- NM_001407951.1:c.4651-2A>G
- NM_001407952.1:c.4651-2A>G
- NM_001407953.1:c.4651-2A>G
- NM_001407954.1:c.4651-2A>G
- NM_001407955.1:c.4651-2A>G
- NM_001407956.1:c.4648-2A>G
- NM_001407957.1:c.4648-2A>G
- NM_001407958.1:c.4648-2A>G
- NM_001407959.1:c.4606-2A>G
- NM_001407960.1:c.4603-2A>G
- NM_001407962.1:c.4603-2A>G
- NM_001407963.1:c.4600-2A>G
- NM_001407964.1:c.4525-2A>G
- NM_001407965.1:c.4480-2A>G
- NM_001407966.1:c.4099-2A>G
- NM_001407967.1:c.4096-2A>G
- NM_001407968.1:c.2383-2A>G
- NM_001407969.1:c.2380-2A>G
- NM_001407970.1:c.1744-2A>G
- NM_001407971.1:c.1744-2A>G
- NM_001407972.1:c.1741-2A>G
- NM_001407973.1:c.1678-2A>G
- NM_001407974.1:c.1678-2A>G
- NM_001407975.1:c.1678-2A>G
- NM_001407976.1:c.1678-2A>G
- NM_001407977.1:c.1678-2A>G
- NM_001407978.1:c.1678-2A>G
- NM_001407979.1:c.1675-2A>G
- NM_001407980.1:c.1675-2A>G
- NM_001407981.1:c.1675-2A>G
- NM_001407982.1:c.1675-2A>G
- NM_001407983.1:c.1675-2A>G
- NM_001407984.1:c.1675-2A>G
- NM_001407985.1:c.1675-2A>G
- NM_001407986.1:c.1675-2A>G
- NM_001407990.1:c.1675-2A>G
- NM_001407991.1:c.1675-2A>G
- NM_001407992.1:c.1675-2A>G
- NM_001407993.1:c.1675-2A>G
- NM_001408392.1:c.1672-2A>G
- NM_001408396.1:c.1672-2A>G
- NM_001408397.1:c.1672-2A>G
- NM_001408398.1:c.1672-2A>G
- NM_001408399.1:c.1672-2A>G
- NM_001408400.1:c.1672-2A>G
- NM_001408401.1:c.1672-2A>G
- NM_001408402.1:c.1672-2A>G
- NM_001408403.1:c.1672-2A>G
- NM_001408404.1:c.1672-2A>G
- NM_001408406.1:c.1669-2A>G
- NM_001408407.1:c.1669-2A>G
- NM_001408408.1:c.1669-2A>G
- NM_001408409.1:c.1666-2A>G
- NM_001408410.1:c.1603-2A>G
- NM_001408411.1:c.1600-2A>G
- NM_001408412.1:c.1597-2A>G
- NM_001408413.1:c.1597-2A>G
- NM_001408414.1:c.1597-2A>G
- NM_001408415.1:c.1597-2A>G
- NM_001408416.1:c.1597-2A>G
- NM_001408418.1:c.1561-2A>G
- NM_001408419.1:c.1561-2A>G
- NM_001408420.1:c.1561-2A>G
- NM_001408421.1:c.1558-2A>G
- NM_001408422.1:c.1558-2A>G
- NM_001408423.1:c.1558-2A>G
- NM_001408424.1:c.1558-2A>G
- NM_001408425.1:c.1555-2A>G
- NM_001408426.1:c.1555-2A>G
- NM_001408427.1:c.1555-2A>G
- NM_001408428.1:c.1555-2A>G
- NM_001408429.1:c.1555-2A>G
- NM_001408430.1:c.1555-2A>G
- NM_001408431.1:c.1555-2A>G
- NM_001408432.1:c.1552-2A>G
- NM_001408433.1:c.1552-2A>G
- NM_001408434.1:c.1552-2A>G
- NM_001408435.1:c.1552-2A>G
- NM_001408436.1:c.1552-2A>G
- NM_001408437.1:c.1552-2A>G
- NM_001408438.1:c.1552-2A>G
- NM_001408439.1:c.1552-2A>G
- NM_001408440.1:c.1552-2A>G
- NM_001408441.1:c.1552-2A>G
- NM_001408442.1:c.1552-2A>G
- NM_001408443.1:c.1552-2A>G
- NM_001408444.1:c.1552-2A>G
- NM_001408445.1:c.1549-2A>G
- NM_001408446.1:c.1549-2A>G
- NM_001408447.1:c.1549-2A>G
- NM_001408448.1:c.1549-2A>G
- NM_001408450.1:c.1549-2A>G
- NM_001408451.1:c.1543-2A>G
- NM_001408452.1:c.1537-2A>G
- NM_001408453.1:c.1537-2A>G
- NM_001408454.1:c.1537-2A>G
- NM_001408455.1:c.1537-2A>G
- NM_001408456.1:c.1537-2A>G
- NM_001408457.1:c.1537-2A>G
- NM_001408458.1:c.1534-2A>G
- NM_001408459.1:c.1534-2A>G
- NM_001408460.1:c.1534-2A>G
- NM_001408461.1:c.1534-2A>G
- NM_001408462.1:c.1534-2A>G
- NM_001408463.1:c.1534-2A>G
- NM_001408464.1:c.1534-2A>G
- NM_001408465.1:c.1534-2A>G
- NM_001408466.1:c.1534-2A>G
- NM_001408467.1:c.1534-2A>G
- NM_001408468.1:c.1531-2A>G
- NM_001408469.1:c.1531-2A>G
- NM_001408470.1:c.1531-2A>G
- NM_001408472.1:c.1675-2A>G
- NM_001408473.1:c.1672-2A>G
- NM_001408474.1:c.1477-2A>G
- NM_001408475.1:c.1474-2A>G
- NM_001408476.1:c.1474-2A>G
- NM_001408478.1:c.1468-2A>G
- NM_001408479.1:c.1468-2A>G
- NM_001408480.1:c.1468-2A>G
- NM_001408481.1:c.1465-2A>G
- NM_001408482.1:c.1465-2A>G
- NM_001408483.1:c.1465-2A>G
- NM_001408484.1:c.1465-2A>G
- NM_001408485.1:c.1465-2A>G
- NM_001408489.1:c.1465-2A>G
- NM_001408490.1:c.1465-2A>G
- NM_001408491.1:c.1465-2A>G
- NM_001408492.1:c.1462-2A>G
- NM_001408493.1:c.1462-2A>G
- NM_001408494.1:c.1438-2A>G
- NM_001408495.1:c.1432-2A>G
- NM_001408496.1:c.1414-2A>G
- NM_001408497.1:c.1414-2A>G
- NM_001408498.1:c.1414-2A>G
- NM_001408499.1:c.1414-2A>G
- NM_001408500.1:c.1414-2A>G
- NM_001408501.1:c.1414-2A>G
- NM_001408502.1:c.1411-2A>G
- NM_001408503.1:c.1411-2A>G
- NM_001408504.1:c.1411-2A>G
- NM_001408505.1:c.1408-2A>G
- NM_001408506.1:c.1351-2A>G
- NM_001408507.1:c.1348-2A>G
- NM_001408508.1:c.1339-2A>G
- NM_001408509.1:c.1336-2A>G
- NM_001408510.1:c.1297-2A>G
- NM_001408511.1:c.1294-2A>G
- NM_001408512.1:c.1174-2A>G
- NM_001408513.1:c.1147-2A>G
- NM_001408514.1:c.839-3746A>G
- NM_007294.4:c.4987-2A>GMANE SELECT
- NM_007297.4:c.4846-2A>G
- NM_007298.4:c.1675-2A>G
- NM_007299.4:c.1675-2A>G
- NM_007300.4:c.5050-2A>G
- LRG_292t1:c.4987-2A>G
- LRG_292:g.150287A>G
- NC_000017.10:g.41219714T>C
- NM_007294.3:c.4987-2A>G
- NM_007298.3:c.1675-2A>G
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.
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
Homo sapiens BTB (POZ) domain containing 16, mRNA (cDNA clone MGC:129864 IMAGE:4...
Homo sapiens BTB (POZ) domain containing 16, mRNA (cDNA clone MGC:129864 IMAGE:40025404), complete cdsgi|80476646|gb|BC109261.1|Nucleotide
-
KLRD1 [Vulpes vulpes]
KLRD1 [Vulpes vulpes]Gene ID:112917501Gene
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV002640407 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely pathogenic (Jun 29, 2020) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Meyer P, Voigtlaender T, Bartram CR, Klaes R.
Hum Mutat. 2003 Sep;22(3):259.
PubMed [citation]
- PMID:
- 12938098
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.
Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.
PubMed [citation]
- PMID:
- 25525159
- PMCID:
- PMC4362528
Details of each submission
From Ambry Genetics, SCV002640407.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
Description
The c.4987-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 15 in the BRCA1 gene. This nucleotide position is highly conserved in available vertebrate species. One functional study found that this nucleotide substitution is functional in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). However, this alteration was predicted to be pathogenic using a multifactorial likelihood analysis (Parsons MT et al. Hum. Mutat. 2019 09;40(9):1557-1578). Additionally, this alteration has been shown to cause aberrant splicing of exon 15 skipping, which is a NMD-prone transcript (Thomassen M et al. Breast Cancer Res. Treat. 2012 Apr;132(3):1009-23). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Oct 26, 2024