NM_007294.4(BRCA1):c.4987-2A>G AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 18, 2021
- 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:
- RCV001853015.12
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 breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
-
PREDICTED: Rattus norvegicus mitoguardin 1 (Miga1), transcript variant X4, mRNA
PREDICTED: Rattus norvegicus mitoguardin 1 (Miga1), transcript variant X4, mRNAgi|2678921905|ref|XM_039103885.2|Nucleotide
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV002231213 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Oct 18, 2021) | 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
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.
Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.
PubMed [citation]
- PMID:
- 29446198
- PMCID:
- PMC5903938
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV002231213.3
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (8) |
Description
ClinVar contains an entry for this variant (Variation ID: 55345). This variant is also known as IVS16-2A>G. Disruption of this splice site has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12938098, 21769658, 29446198). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 15 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 21769658, 31131967). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that disruption of this splice site does not substantially affect BRCA1 function (PMID: 30209399).
| # | 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