NM_007294.4(BRCA1):c.4987-2A>G AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jun 18, 2019
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- 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:
- RCV000258325.15
Allele description [Variation Report for NM_007294.4(BRCA1):c.4987-2A>G]
NM_007294.4(BRCA1):c.4987-2A>G
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4987-2A>G
- HGVS:
- NC_000017.11:g.43067697T>C
- NG_005905.2:g.150287A>G
- NM_001407571.1:c.4774-2A>G
- NM_001407581.1:c.5053-2A>G
- NM_001407582.1:c.5053-2A>G
- NM_001407583.1:c.5050-2A>G
- NM_001407585.1:c.5050-2A>G
- NM_001407587.1:c.5050-2A>G
- NM_001407590.1:c.5047-2A>G
- NM_001407591.1:c.5047-2A>G
- NM_001407593.1:c.4987-2A>G
- NM_001407594.1:c.4987-2A>G
- NM_001407596.1:c.4987-2A>G
- NM_001407597.1:c.4987-2A>G
- NM_001407598.1:c.4987-2A>G
- NM_001407602.1:c.4987-2A>G
- NM_001407603.1:c.4987-2A>G
- NM_001407605.1:c.4987-2A>G
- NM_001407610.1:c.4984-2A>G
- NM_001407611.1:c.4984-2A>G
- NM_001407612.1:c.4984-2A>G
- NM_001407613.1:c.4984-2A>G
- NM_001407614.1:c.4984-2A>G
- NM_001407615.1:c.4984-2A>G
- NM_001407616.1:c.4984-2A>G
- NM_001407617.1:c.4984-2A>G
- NM_001407618.1:c.4984-2A>G
- NM_001407619.1:c.4984-2A>G
- NM_001407620.1:c.4984-2A>G
- NM_001407621.1:c.4984-2A>G
- NM_001407622.1:c.4984-2A>G
- NM_001407623.1:c.4984-2A>G
- NM_001407624.1:c.4984-2A>G
- NM_001407625.1:c.4984-2A>G
- NM_001407626.1:c.4984-2A>G
- NM_001407627.1:c.4981-2A>G
- NM_001407628.1:c.4981-2A>G
- NM_001407629.1:c.4981-2A>G
- NM_001407630.1:c.4981-2A>G
- NM_001407631.1:c.4981-2A>G
- NM_001407632.1:c.4981-2A>G
- NM_001407633.1:c.4981-2A>G
- NM_001407634.1:c.4981-2A>G
- NM_001407635.1:c.4981-2A>G
- NM_001407636.1:c.4981-2A>G
- NM_001407637.1:c.4981-2A>G
- NM_001407638.1:c.4981-2A>G
- NM_001407639.1:c.4981-2A>G
- NM_001407640.1:c.4981-2A>G
- NM_001407641.1:c.4981-2A>G
- NM_001407642.1:c.4981-2A>G
- NM_001407644.1:c.4978-2A>G
- NM_001407645.1:c.4978-2A>G
- NM_001407646.1:c.4975-2A>G
- NM_001407647.1:c.4972-2A>G
- NM_001407648.1:c.4930-2A>G
- NM_001407649.1:c.4927-2A>G
- NM_001407652.1:c.4987-2A>G
- NM_001407653.1:c.4909-2A>G
- NM_001407654.1:c.4909-2A>G
- NM_001407655.1:c.4909-2A>G
- NM_001407656.1:c.4906-2A>G
- NM_001407657.1:c.4906-2A>G
- NM_001407658.1:c.4906-2A>G
- NM_001407659.1:c.4903-2A>G
- NM_001407660.1:c.4903-2A>G
- NM_001407661.1:c.4903-2A>G
- NM_001407662.1:c.4903-2A>G
- NM_001407663.1:c.4903-2A>G
- NM_001407664.1:c.4864-2A>G
- NM_001407665.1:c.4864-2A>G
- NM_001407666.1:c.4864-2A>G
- NM_001407667.1:c.4864-2A>G
- NM_001407668.1:c.4864-2A>G
- NM_001407669.1:c.4864-2A>G
- NM_001407670.1:c.4861-2A>G
- NM_001407671.1:c.4861-2A>G
- NM_001407672.1:c.4861-2A>G
- NM_001407673.1:c.4861-2A>G
- NM_001407674.1:c.4861-2A>G
- NM_001407675.1:c.4861-2A>G
- NM_001407676.1:c.4861-2A>G
- NM_001407677.1:c.4861-2A>G
- NM_001407678.1:c.4861-2A>G
- NM_001407679.1:c.4861-2A>G
- NM_001407680.1:c.4861-2A>G
- NM_001407681.1:c.4858-2A>G
- NM_001407682.1:c.4858-2A>G
- NM_001407683.1:c.4858-2A>G
- NM_001407684.1:c.4987-2A>G
- NM_001407685.1:c.4858-2A>G
- NM_001407686.1:c.4858-2A>G
- NM_001407687.1:c.4858-2A>G
- NM_001407688.1:c.4858-2A>G
- NM_001407689.1:c.4858-2A>G
- NM_001407690.1:c.4855-2A>G
- NM_001407691.1:c.4855-2A>G
- NM_001407692.1:c.4846-2A>G
- NM_001407694.1:c.4846-2A>G
- NM_001407695.1:c.4846-2A>G
- NM_001407696.1:c.4846-2A>G
- NM_001407697.1:c.4846-2A>G
- NM_001407698.1:c.4846-2A>G
- NM_001407724.1:c.4846-2A>G
- NM_001407725.1:c.4846-2A>G
- NM_001407726.1:c.4846-2A>G
- NM_001407727.1:c.4846-2A>G
- NM_001407728.1:c.4846-2A>G
- NM_001407729.1:c.4846-2A>G
- NM_001407730.1:c.4846-2A>G
- NM_001407731.1:c.4846-2A>G
- NM_001407732.1:c.4843-2A>G
- NM_001407733.1:c.4843-2A>G
- NM_001407734.1:c.4843-2A>G
- NM_001407735.1:c.4843-2A>G
- NM_001407736.1:c.4843-2A>G
- NM_001407737.1:c.4843-2A>G
- NM_001407738.1:c.4843-2A>G
- NM_001407739.1:c.4843-2A>G
- NM_001407740.1:c.4843-2A>G
- NM_001407741.1:c.4843-2A>G
- NM_001407742.1:c.4843-2A>G
- NM_001407743.1:c.4843-2A>G
- NM_001407744.1:c.4843-2A>G
- NM_001407745.1:c.4843-2A>G
- NM_001407746.1:c.4843-2A>G
- NM_001407747.1:c.4843-2A>G
- NM_001407748.1:c.4843-2A>G
- NM_001407749.1:c.4843-2A>G
- NM_001407750.1:c.4843-2A>G
- NM_001407751.1:c.4843-2A>G
- NM_001407752.1:c.4843-2A>G
- NM_001407838.1:c.4840-2A>G
- NM_001407839.1:c.4840-2A>G
- NM_001407841.1:c.4840-2A>G
- NM_001407842.1:c.4840-2A>G
- NM_001407843.1:c.4840-2A>G
- NM_001407844.1:c.4840-2A>G
- NM_001407845.1:c.4840-2A>G
- NM_001407846.1:c.4840-2A>G
- NM_001407847.1:c.4840-2A>G
- NM_001407848.1:c.4840-2A>G
- NM_001407849.1:c.4840-2A>G
- NM_001407850.1:c.4840-2A>G
- NM_001407851.1:c.4840-2A>G
- NM_001407852.1:c.4840-2A>G
- NM_001407853.1:c.4840-2A>G
- NM_001407854.1:c.4987-2A>G
- NM_001407858.1:c.4984-2A>G
- NM_001407859.1:c.4984-2A>G
- NM_001407860.1:c.4984-2A>G
- NM_001407861.1:c.4981-2A>G
- NM_001407862.1:c.4786-2A>G
- NM_001407863.1:c.4861-2A>G
- NM_001407874.1:c.4780-2A>G
- NM_001407875.1:c.4780-2A>G
- NM_001407879.1:c.4777-2A>G
- NM_001407881.1:c.4777-2A>G
- NM_001407882.1:c.4777-2A>G
- NM_001407884.1:c.4777-2A>G
- NM_001407885.1:c.4777-2A>G
- NM_001407886.1:c.4777-2A>G
- NM_001407887.1:c.4777-2A>G
- NM_001407889.1:c.4777-2A>G
- NM_001407894.1:c.4774-2A>G
- NM_001407895.1:c.4774-2A>G
- NM_001407896.1:c.4774-2A>G
- NM_001407897.1:c.4774-2A>G
- NM_001407898.1:c.4774-2A>G
- NM_001407899.1:c.4774-2A>G
- NM_001407900.1:c.4774-2A>G
- NM_001407902.1:c.4774-2A>G
- NM_001407904.1:c.4774-2A>G
- NM_001407906.1:c.4774-2A>G
- NM_001407907.1:c.4774-2A>G
- NM_001407908.1:c.4774-2A>G
- NM_001407909.1:c.4774-2A>G
- NM_001407910.1:c.4774-2A>G
- NM_001407915.1:c.4771-2A>G
- NM_001407916.1:c.4771-2A>G
- NM_001407917.1:c.4771-2A>G
- NM_001407918.1:c.4771-2A>G
- NM_001407919.1:c.4864-2A>G
- NM_001407920.1:c.4723-2A>G
- NM_001407921.1:c.4723-2A>G
- NM_001407922.1:c.4723-2A>G
- NM_001407923.1:c.4723-2A>G
- NM_001407924.1:c.4723-2A>G
- NM_001407925.1:c.4723-2A>G
- NM_001407926.1:c.4723-2A>G
- NM_001407927.1:c.4720-2A>G
- NM_001407928.1:c.4720-2A>G
- NM_001407929.1:c.4720-2A>G
- NM_001407930.1:c.4720-2A>G
- NM_001407931.1:c.4720-2A>G
- NM_001407932.1:c.4720-2A>G
- NM_001407933.1:c.4720-2A>G
- NM_001407934.1:c.4717-2A>G
- NM_001407935.1:c.4717-2A>G
- NM_001407936.1:c.4717-2A>G
- NM_001407937.1:c.4864-2A>G
- NM_001407938.1:c.4864-2A>G
- NM_001407939.1:c.4861-2A>G
- NM_001407940.1:c.4861-2A>G
- NM_001407941.1:c.4858-2A>G
- NM_001407942.1:c.4846-2A>G
- NM_001407943.1:c.4843-2A>G
- NM_001407944.1:c.4843-2A>G
- NM_001407945.1:c.4843-2A>G
- NM_001407946.1:c.4654-2A>G
- NM_001407947.1:c.4654-2A>G
- NM_001407948.1:c.4654-2A>G
- NM_001407949.1:c.4654-2A>G
- NM_001407950.1:c.4651-2A>G
- NM_001407951.1:c.4651-2A>G
- NM_001407952.1:c.4651-2A>G
- NM_001407953.1:c.4651-2A>G
- NM_001407954.1:c.4651-2A>G
- NM_001407955.1:c.4651-2A>G
- NM_001407956.1:c.4648-2A>G
- NM_001407957.1:c.4648-2A>G
- NM_001407958.1:c.4648-2A>G
- NM_001407959.1:c.4606-2A>G
- NM_001407960.1:c.4603-2A>G
- NM_001407962.1:c.4603-2A>G
- NM_001407963.1:c.4600-2A>G
- NM_001407964.1:c.4525-2A>G
- NM_001407965.1:c.4480-2A>G
- NM_001407966.1:c.4099-2A>G
- NM_001407967.1:c.4096-2A>G
- NM_001407968.1:c.2383-2A>G
- NM_001407969.1:c.2380-2A>G
- NM_001407970.1:c.1744-2A>G
- NM_001407971.1:c.1744-2A>G
- NM_001407972.1:c.1741-2A>G
- NM_001407973.1:c.1678-2A>G
- NM_001407974.1:c.1678-2A>G
- NM_001407975.1:c.1678-2A>G
- NM_001407976.1:c.1678-2A>G
- NM_001407977.1:c.1678-2A>G
- NM_001407978.1:c.1678-2A>G
- NM_001407979.1:c.1675-2A>G
- NM_001407980.1:c.1675-2A>G
- NM_001407981.1:c.1675-2A>G
- NM_001407982.1:c.1675-2A>G
- NM_001407983.1:c.1675-2A>G
- NM_001407984.1:c.1675-2A>G
- NM_001407985.1:c.1675-2A>G
- NM_001407986.1:c.1675-2A>G
- NM_001407990.1:c.1675-2A>G
- NM_001407991.1:c.1675-2A>G
- NM_001407992.1:c.1675-2A>G
- NM_001407993.1:c.1675-2A>G
- NM_001408392.1:c.1672-2A>G
- NM_001408396.1:c.1672-2A>G
- NM_001408397.1:c.1672-2A>G
- NM_001408398.1:c.1672-2A>G
- NM_001408399.1:c.1672-2A>G
- NM_001408400.1:c.1672-2A>G
- NM_001408401.1:c.1672-2A>G
- NM_001408402.1:c.1672-2A>G
- NM_001408403.1:c.1672-2A>G
- NM_001408404.1:c.1672-2A>G
- NM_001408406.1:c.1669-2A>G
- NM_001408407.1:c.1669-2A>G
- NM_001408408.1:c.1669-2A>G
- NM_001408409.1:c.1666-2A>G
- NM_001408410.1:c.1603-2A>G
- NM_001408411.1:c.1600-2A>G
- NM_001408412.1:c.1597-2A>G
- NM_001408413.1:c.1597-2A>G
- NM_001408414.1:c.1597-2A>G
- NM_001408415.1:c.1597-2A>G
- NM_001408416.1:c.1597-2A>G
- NM_001408418.1:c.1561-2A>G
- NM_001408419.1:c.1561-2A>G
- NM_001408420.1:c.1561-2A>G
- NM_001408421.1:c.1558-2A>G
- NM_001408422.1:c.1558-2A>G
- NM_001408423.1:c.1558-2A>G
- NM_001408424.1:c.1558-2A>G
- NM_001408425.1:c.1555-2A>G
- NM_001408426.1:c.1555-2A>G
- NM_001408427.1:c.1555-2A>G
- NM_001408428.1:c.1555-2A>G
- NM_001408429.1:c.1555-2A>G
- NM_001408430.1:c.1555-2A>G
- NM_001408431.1:c.1555-2A>G
- NM_001408432.1:c.1552-2A>G
- NM_001408433.1:c.1552-2A>G
- NM_001408434.1:c.1552-2A>G
- NM_001408435.1:c.1552-2A>G
- NM_001408436.1:c.1552-2A>G
- NM_001408437.1:c.1552-2A>G
- NM_001408438.1:c.1552-2A>G
- NM_001408439.1:c.1552-2A>G
- NM_001408440.1:c.1552-2A>G
- NM_001408441.1:c.1552-2A>G
- NM_001408442.1:c.1552-2A>G
- NM_001408443.1:c.1552-2A>G
- NM_001408444.1:c.1552-2A>G
- NM_001408445.1:c.1549-2A>G
- NM_001408446.1:c.1549-2A>G
- NM_001408447.1:c.1549-2A>G
- NM_001408448.1:c.1549-2A>G
- NM_001408450.1:c.1549-2A>G
- NM_001408451.1:c.1543-2A>G
- NM_001408452.1:c.1537-2A>G
- NM_001408453.1:c.1537-2A>G
- NM_001408454.1:c.1537-2A>G
- NM_001408455.1:c.1537-2A>G
- NM_001408456.1:c.1537-2A>G
- NM_001408457.1:c.1537-2A>G
- NM_001408458.1:c.1534-2A>G
- NM_001408459.1:c.1534-2A>G
- NM_001408460.1:c.1534-2A>G
- NM_001408461.1:c.1534-2A>G
- NM_001408462.1:c.1534-2A>G
- NM_001408463.1:c.1534-2A>G
- NM_001408464.1:c.1534-2A>G
- NM_001408465.1:c.1534-2A>G
- NM_001408466.1:c.1534-2A>G
- NM_001408467.1:c.1534-2A>G
- NM_001408468.1:c.1531-2A>G
- NM_001408469.1:c.1531-2A>G
- NM_001408470.1:c.1531-2A>G
- NM_001408472.1:c.1675-2A>G
- NM_001408473.1:c.1672-2A>G
- NM_001408474.1:c.1477-2A>G
- NM_001408475.1:c.1474-2A>G
- NM_001408476.1:c.1474-2A>G
- NM_001408478.1:c.1468-2A>G
- NM_001408479.1:c.1468-2A>G
- NM_001408480.1:c.1468-2A>G
- NM_001408481.1:c.1465-2A>G
- NM_001408482.1:c.1465-2A>G
- NM_001408483.1:c.1465-2A>G
- NM_001408484.1:c.1465-2A>G
- NM_001408485.1:c.1465-2A>G
- NM_001408489.1:c.1465-2A>G
- NM_001408490.1:c.1465-2A>G
- NM_001408491.1:c.1465-2A>G
- NM_001408492.1:c.1462-2A>G
- NM_001408493.1:c.1462-2A>G
- NM_001408494.1:c.1438-2A>G
- NM_001408495.1:c.1432-2A>G
- NM_001408496.1:c.1414-2A>G
- NM_001408497.1:c.1414-2A>G
- NM_001408498.1:c.1414-2A>G
- NM_001408499.1:c.1414-2A>G
- NM_001408500.1:c.1414-2A>G
- NM_001408501.1:c.1414-2A>G
- NM_001408502.1:c.1411-2A>G
- NM_001408503.1:c.1411-2A>G
- NM_001408504.1:c.1411-2A>G
- NM_001408505.1:c.1408-2A>G
- NM_001408506.1:c.1351-2A>G
- NM_001408507.1:c.1348-2A>G
- NM_001408508.1:c.1339-2A>G
- NM_001408509.1:c.1336-2A>G
- NM_001408510.1:c.1297-2A>G
- NM_001408511.1:c.1294-2A>G
- NM_001408512.1:c.1174-2A>G
- NM_001408513.1:c.1147-2A>G
- NM_001408514.1:c.839-3746A>G
- NM_007294.4:c.4987-2A>GMANE SELECT
- NM_007297.4:c.4846-2A>G
- NM_007298.4:c.1675-2A>G
- NM_007299.4:c.1675-2A>G
- NM_007300.4:c.5050-2A>G
- LRG_292t1:c.4987-2A>G
- LRG_292:g.150287A>G
- NC_000017.10:g.41219714T>C
- NM_007294.3:c.4987-2A>G
- NM_007298.3:c.1675-2A>G
This HGVS expression did not pass validation- Links:
- dbSNP: rs397509212
- NCBI 1000 Genomes Browser:
- rs397509212
- Molecular consequence:
- NM_001408514.1:c.839-3746A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407581.1:c.5053-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407582.1:c.5053-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407583.1:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407585.1:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407587.1:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407590.1:c.5047-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407591.1:c.5047-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407593.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407594.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407596.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407597.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407598.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407602.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407603.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407605.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407610.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407611.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407612.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407613.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407614.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407615.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407616.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407617.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407618.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407619.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407620.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407621.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407622.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407623.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407624.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407625.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407626.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407627.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407628.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407629.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407630.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407631.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407632.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407633.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407634.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407635.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407636.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407637.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407638.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407639.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407640.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407641.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407642.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407644.1:c.4978-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407645.1:c.4978-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407646.1:c.4975-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407647.1:c.4972-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407648.1:c.4930-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407649.1:c.4927-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407652.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407653.1:c.4909-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407654.1:c.4909-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407655.1:c.4909-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407656.1:c.4906-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407657.1:c.4906-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407658.1:c.4906-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407659.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407660.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407661.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407662.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407663.1:c.4903-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407664.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407665.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407666.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407667.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407668.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407669.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407670.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407671.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407672.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407673.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407674.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407675.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407676.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407677.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407678.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407679.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407680.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407681.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407682.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407683.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407684.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407685.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407686.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407687.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407688.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407689.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407690.1:c.4855-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407691.1:c.4855-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407692.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407694.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407695.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407696.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407697.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407698.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407724.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407725.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407726.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407727.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407728.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407729.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407730.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407731.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407732.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407733.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407734.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407735.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407736.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407737.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407738.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407739.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407740.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407741.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407742.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407743.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407744.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407745.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407746.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407747.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407748.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407749.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407750.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407751.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407752.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407838.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407839.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407841.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407842.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407843.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407844.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407845.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407846.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407847.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407848.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407849.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407850.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407851.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407852.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407853.1:c.4840-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407854.1:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407858.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407859.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407860.1:c.4984-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407861.1:c.4981-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407862.1:c.4786-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407863.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407874.1:c.4780-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407875.1:c.4780-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407879.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407881.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407882.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407884.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407885.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407886.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407887.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407889.1:c.4777-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407894.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407895.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407896.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407897.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407898.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407899.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407900.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407902.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407904.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407906.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407907.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407908.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407909.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407910.1:c.4774-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407915.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407916.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407917.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407918.1:c.4771-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407919.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407920.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407921.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407922.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407923.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407924.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407925.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407926.1:c.4723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407927.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407928.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407929.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407930.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407931.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407932.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407933.1:c.4720-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407934.1:c.4717-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407935.1:c.4717-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407936.1:c.4717-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407937.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407938.1:c.4864-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407939.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407940.1:c.4861-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407941.1:c.4858-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407942.1:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407943.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407944.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407945.1:c.4843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407946.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407947.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407948.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407949.1:c.4654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407950.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407951.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407952.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407953.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407954.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407955.1:c.4651-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407956.1:c.4648-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407957.1:c.4648-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407958.1:c.4648-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407959.1:c.4606-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407960.1:c.4603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407962.1:c.4603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407963.1:c.4600-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407964.1:c.4525-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407965.1:c.4480-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407966.1:c.4099-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407967.1:c.4096-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407968.1:c.2383-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407969.1:c.2380-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407970.1:c.1744-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407971.1:c.1744-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407972.1:c.1741-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407973.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407974.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407975.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407976.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407977.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407978.1:c.1678-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407979.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407980.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407981.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407982.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407983.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407984.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407985.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407986.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407990.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407991.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407992.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001407993.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408392.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408396.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408397.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408398.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408399.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408400.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408401.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408402.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408403.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408404.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408406.1:c.1669-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408407.1:c.1669-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408408.1:c.1669-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408409.1:c.1666-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408410.1:c.1603-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408411.1:c.1600-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408412.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408413.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408414.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408415.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408416.1:c.1597-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408418.1:c.1561-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408419.1:c.1561-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408420.1:c.1561-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408421.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408422.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408423.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408424.1:c.1558-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408425.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408426.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408427.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408428.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408429.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408430.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408431.1:c.1555-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408432.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408433.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408434.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408435.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408436.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408437.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408438.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408439.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408440.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408441.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408442.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408443.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408444.1:c.1552-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408445.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408446.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408447.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408448.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408450.1:c.1549-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408451.1:c.1543-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408452.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408453.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408454.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408455.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408456.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408457.1:c.1537-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408458.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408459.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408460.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408461.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408462.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408463.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408464.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408465.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408466.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408467.1:c.1534-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408468.1:c.1531-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408469.1:c.1531-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408470.1:c.1531-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408472.1:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408473.1:c.1672-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408474.1:c.1477-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408475.1:c.1474-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408476.1:c.1474-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408478.1:c.1468-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408479.1:c.1468-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408480.1:c.1468-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408481.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408482.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408483.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408484.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408485.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408489.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408490.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408491.1:c.1465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408492.1:c.1462-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408493.1:c.1462-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408494.1:c.1438-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408495.1:c.1432-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408496.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408497.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408498.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408499.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408500.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408501.1:c.1414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408502.1:c.1411-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408503.1:c.1411-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408504.1:c.1411-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408505.1:c.1408-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408506.1:c.1351-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408507.1:c.1348-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408508.1:c.1339-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408509.1:c.1336-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408510.1:c.1297-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408511.1:c.1294-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408512.1:c.1174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_001408513.1:c.1147-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007294.4:c.4987-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007297.4:c.4846-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007298.4:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007299.4:c.1675-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- NM_007300.4:c.5050-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.4987-2A>G, a CANONICAL SPLICE variant, produced a function score of 0.3, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
- Observations:
- 4
Condition(s)
-
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 |
|---|---|---|---|---|---|---|
| SCV000326096 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
| SCV001161631 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29)) | Pathogenic (Jun 18, 2019) | germline | curation | |
| SCV001238409 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | unknown | not provided | 4 | not provided | not provided | not provided | clinical testing, curation |
| not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
Citations
PubMed
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.
Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.
PubMed [citation]
- PMID:
- 31131967
- PMCID:
- PMC6772163
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
PubMed [citation]
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326096.4
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 4 | not provided | |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161631.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.998471
| # | 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 | |
From Brotman Baty Institute, University of Washington, SCV001238409.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Oct 26, 2024