NM_007294.4(BRCA1):c.4987-5T>A AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 24, 2018
- 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:
- RCV002345342.9
Allele description [Variation Report for NM_007294.4(BRCA1):c.4987-5T>A]
NM_007294.4(BRCA1):c.4987-5T>A
- 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.4987-5T>A
- HGVS:
- NC_000017.11:g.43067700A>T
- NG_005905.2:g.150284T>A
- NM_001407571.1:c.4774-5T>A
- NM_001407581.1:c.5053-5T>A
- NM_001407582.1:c.5053-5T>A
- NM_001407583.1:c.5050-5T>A
- NM_001407585.1:c.5050-5T>A
- NM_001407587.1:c.5050-5T>A
- NM_001407590.1:c.5047-5T>A
- NM_001407591.1:c.5047-5T>A
- NM_001407593.1:c.4987-5T>A
- NM_001407594.1:c.4987-5T>A
- NM_001407596.1:c.4987-5T>A
- NM_001407597.1:c.4987-5T>A
- NM_001407598.1:c.4987-5T>A
- NM_001407602.1:c.4987-5T>A
- NM_001407603.1:c.4987-5T>A
- NM_001407605.1:c.4987-5T>A
- NM_001407610.1:c.4984-5T>A
- NM_001407611.1:c.4984-5T>A
- NM_001407612.1:c.4984-5T>A
- NM_001407613.1:c.4984-5T>A
- NM_001407614.1:c.4984-5T>A
- NM_001407615.1:c.4984-5T>A
- NM_001407616.1:c.4984-5T>A
- NM_001407617.1:c.4984-5T>A
- NM_001407618.1:c.4984-5T>A
- NM_001407619.1:c.4984-5T>A
- NM_001407620.1:c.4984-5T>A
- NM_001407621.1:c.4984-5T>A
- NM_001407622.1:c.4984-5T>A
- NM_001407623.1:c.4984-5T>A
- NM_001407624.1:c.4984-5T>A
- NM_001407625.1:c.4984-5T>A
- NM_001407626.1:c.4984-5T>A
- NM_001407627.1:c.4981-5T>A
- NM_001407628.1:c.4981-5T>A
- NM_001407629.1:c.4981-5T>A
- NM_001407630.1:c.4981-5T>A
- NM_001407631.1:c.4981-5T>A
- NM_001407632.1:c.4981-5T>A
- NM_001407633.1:c.4981-5T>A
- NM_001407634.1:c.4981-5T>A
- NM_001407635.1:c.4981-5T>A
- NM_001407636.1:c.4981-5T>A
- NM_001407637.1:c.4981-5T>A
- NM_001407638.1:c.4981-5T>A
- NM_001407639.1:c.4981-5T>A
- NM_001407640.1:c.4981-5T>A
- NM_001407641.1:c.4981-5T>A
- NM_001407642.1:c.4981-5T>A
- NM_001407644.1:c.4978-5T>A
- NM_001407645.1:c.4978-5T>A
- NM_001407646.1:c.4975-5T>A
- NM_001407647.1:c.4972-5T>A
- NM_001407648.1:c.4930-5T>A
- NM_001407649.1:c.4927-5T>A
- NM_001407652.1:c.4987-5T>A
- NM_001407653.1:c.4909-5T>A
- NM_001407654.1:c.4909-5T>A
- NM_001407655.1:c.4909-5T>A
- NM_001407656.1:c.4906-5T>A
- NM_001407657.1:c.4906-5T>A
- NM_001407658.1:c.4906-5T>A
- NM_001407659.1:c.4903-5T>A
- NM_001407660.1:c.4903-5T>A
- NM_001407661.1:c.4903-5T>A
- NM_001407662.1:c.4903-5T>A
- NM_001407663.1:c.4903-5T>A
- NM_001407664.1:c.4864-5T>A
- NM_001407665.1:c.4864-5T>A
- NM_001407666.1:c.4864-5T>A
- NM_001407667.1:c.4864-5T>A
- NM_001407668.1:c.4864-5T>A
- NM_001407669.1:c.4864-5T>A
- NM_001407670.1:c.4861-5T>A
- NM_001407671.1:c.4861-5T>A
- NM_001407672.1:c.4861-5T>A
- NM_001407673.1:c.4861-5T>A
- NM_001407674.1:c.4861-5T>A
- NM_001407675.1:c.4861-5T>A
- NM_001407676.1:c.4861-5T>A
- NM_001407677.1:c.4861-5T>A
- NM_001407678.1:c.4861-5T>A
- NM_001407679.1:c.4861-5T>A
- NM_001407680.1:c.4861-5T>A
- NM_001407681.1:c.4858-5T>A
- NM_001407682.1:c.4858-5T>A
- NM_001407683.1:c.4858-5T>A
- NM_001407684.1:c.4987-5T>A
- NM_001407685.1:c.4858-5T>A
- NM_001407686.1:c.4858-5T>A
- NM_001407687.1:c.4858-5T>A
- NM_001407688.1:c.4858-5T>A
- NM_001407689.1:c.4858-5T>A
- NM_001407690.1:c.4855-5T>A
- NM_001407691.1:c.4855-5T>A
- NM_001407692.1:c.4846-5T>A
- NM_001407694.1:c.4846-5T>A
- NM_001407695.1:c.4846-5T>A
- NM_001407696.1:c.4846-5T>A
- NM_001407697.1:c.4846-5T>A
- NM_001407698.1:c.4846-5T>A
- NM_001407724.1:c.4846-5T>A
- NM_001407725.1:c.4846-5T>A
- NM_001407726.1:c.4846-5T>A
- NM_001407727.1:c.4846-5T>A
- NM_001407728.1:c.4846-5T>A
- NM_001407729.1:c.4846-5T>A
- NM_001407730.1:c.4846-5T>A
- NM_001407731.1:c.4846-5T>A
- NM_001407732.1:c.4843-5T>A
- NM_001407733.1:c.4843-5T>A
- NM_001407734.1:c.4843-5T>A
- NM_001407735.1:c.4843-5T>A
- NM_001407736.1:c.4843-5T>A
- NM_001407737.1:c.4843-5T>A
- NM_001407738.1:c.4843-5T>A
- NM_001407739.1:c.4843-5T>A
- NM_001407740.1:c.4843-5T>A
- NM_001407741.1:c.4843-5T>A
- NM_001407742.1:c.4843-5T>A
- NM_001407743.1:c.4843-5T>A
- NM_001407744.1:c.4843-5T>A
- NM_001407745.1:c.4843-5T>A
- NM_001407746.1:c.4843-5T>A
- NM_001407747.1:c.4843-5T>A
- NM_001407748.1:c.4843-5T>A
- NM_001407749.1:c.4843-5T>A
- NM_001407750.1:c.4843-5T>A
- NM_001407751.1:c.4843-5T>A
- NM_001407752.1:c.4843-5T>A
- NM_001407838.1:c.4840-5T>A
- NM_001407839.1:c.4840-5T>A
- NM_001407841.1:c.4840-5T>A
- NM_001407842.1:c.4840-5T>A
- NM_001407843.1:c.4840-5T>A
- NM_001407844.1:c.4840-5T>A
- NM_001407845.1:c.4840-5T>A
- NM_001407846.1:c.4840-5T>A
- NM_001407847.1:c.4840-5T>A
- NM_001407848.1:c.4840-5T>A
- NM_001407849.1:c.4840-5T>A
- NM_001407850.1:c.4840-5T>A
- NM_001407851.1:c.4840-5T>A
- NM_001407852.1:c.4840-5T>A
- NM_001407853.1:c.4840-5T>A
- NM_001407854.1:c.4987-5T>A
- NM_001407858.1:c.4984-5T>A
- NM_001407859.1:c.4984-5T>A
- NM_001407860.1:c.4984-5T>A
- NM_001407861.1:c.4981-5T>A
- NM_001407862.1:c.4786-5T>A
- NM_001407863.1:c.4861-5T>A
- NM_001407874.1:c.4780-5T>A
- NM_001407875.1:c.4780-5T>A
- NM_001407879.1:c.4777-5T>A
- NM_001407881.1:c.4777-5T>A
- NM_001407882.1:c.4777-5T>A
- NM_001407884.1:c.4777-5T>A
- NM_001407885.1:c.4777-5T>A
- NM_001407886.1:c.4777-5T>A
- NM_001407887.1:c.4777-5T>A
- NM_001407889.1:c.4777-5T>A
- NM_001407894.1:c.4774-5T>A
- NM_001407895.1:c.4774-5T>A
- NM_001407896.1:c.4774-5T>A
- NM_001407897.1:c.4774-5T>A
- NM_001407898.1:c.4774-5T>A
- NM_001407899.1:c.4774-5T>A
- NM_001407900.1:c.4774-5T>A
- NM_001407902.1:c.4774-5T>A
- NM_001407904.1:c.4774-5T>A
- NM_001407906.1:c.4774-5T>A
- NM_001407907.1:c.4774-5T>A
- NM_001407908.1:c.4774-5T>A
- NM_001407909.1:c.4774-5T>A
- NM_001407910.1:c.4774-5T>A
- NM_001407915.1:c.4771-5T>A
- NM_001407916.1:c.4771-5T>A
- NM_001407917.1:c.4771-5T>A
- NM_001407918.1:c.4771-5T>A
- NM_001407919.1:c.4864-5T>A
- NM_001407920.1:c.4723-5T>A
- NM_001407921.1:c.4723-5T>A
- NM_001407922.1:c.4723-5T>A
- NM_001407923.1:c.4723-5T>A
- NM_001407924.1:c.4723-5T>A
- NM_001407925.1:c.4723-5T>A
- NM_001407926.1:c.4723-5T>A
- NM_001407927.1:c.4720-5T>A
- NM_001407928.1:c.4720-5T>A
- NM_001407929.1:c.4720-5T>A
- NM_001407930.1:c.4720-5T>A
- NM_001407931.1:c.4720-5T>A
- NM_001407932.1:c.4720-5T>A
- NM_001407933.1:c.4720-5T>A
- NM_001407934.1:c.4717-5T>A
- NM_001407935.1:c.4717-5T>A
- NM_001407936.1:c.4717-5T>A
- NM_001407937.1:c.4864-5T>A
- NM_001407938.1:c.4864-5T>A
- NM_001407939.1:c.4861-5T>A
- NM_001407940.1:c.4861-5T>A
- NM_001407941.1:c.4858-5T>A
- NM_001407942.1:c.4846-5T>A
- NM_001407943.1:c.4843-5T>A
- NM_001407944.1:c.4843-5T>A
- NM_001407945.1:c.4843-5T>A
- NM_001407946.1:c.4654-5T>A
- NM_001407947.1:c.4654-5T>A
- NM_001407948.1:c.4654-5T>A
- NM_001407949.1:c.4654-5T>A
- NM_001407950.1:c.4651-5T>A
- NM_001407951.1:c.4651-5T>A
- NM_001407952.1:c.4651-5T>A
- NM_001407953.1:c.4651-5T>A
- NM_001407954.1:c.4651-5T>A
- NM_001407955.1:c.4651-5T>A
- NM_001407956.1:c.4648-5T>A
- NM_001407957.1:c.4648-5T>A
- NM_001407958.1:c.4648-5T>A
- NM_001407959.1:c.4606-5T>A
- NM_001407960.1:c.4603-5T>A
- NM_001407962.1:c.4603-5T>A
- NM_001407963.1:c.4600-5T>A
- NM_001407964.1:c.4525-5T>A
- NM_001407965.1:c.4480-5T>A
- NM_001407966.1:c.4099-5T>A
- NM_001407967.1:c.4096-5T>A
- NM_001407968.1:c.2383-5T>A
- NM_001407969.1:c.2380-5T>A
- NM_001407970.1:c.1744-5T>A
- NM_001407971.1:c.1744-5T>A
- NM_001407972.1:c.1741-5T>A
- NM_001407973.1:c.1678-5T>A
- NM_001407974.1:c.1678-5T>A
- NM_001407975.1:c.1678-5T>A
- NM_001407976.1:c.1678-5T>A
- NM_001407977.1:c.1678-5T>A
- NM_001407978.1:c.1678-5T>A
- NM_001407979.1:c.1675-5T>A
- NM_001407980.1:c.1675-5T>A
- NM_001407981.1:c.1675-5T>A
- NM_001407982.1:c.1675-5T>A
- NM_001407983.1:c.1675-5T>A
- NM_001407984.1:c.1675-5T>A
- NM_001407985.1:c.1675-5T>A
- NM_001407986.1:c.1675-5T>A
- NM_001407990.1:c.1675-5T>A
- NM_001407991.1:c.1675-5T>A
- NM_001407992.1:c.1675-5T>A
- NM_001407993.1:c.1675-5T>A
- NM_001408392.1:c.1672-5T>A
- NM_001408396.1:c.1672-5T>A
- NM_001408397.1:c.1672-5T>A
- NM_001408398.1:c.1672-5T>A
- NM_001408399.1:c.1672-5T>A
- NM_001408400.1:c.1672-5T>A
- NM_001408401.1:c.1672-5T>A
- NM_001408402.1:c.1672-5T>A
- NM_001408403.1:c.1672-5T>A
- NM_001408404.1:c.1672-5T>A
- NM_001408406.1:c.1669-5T>A
- NM_001408407.1:c.1669-5T>A
- NM_001408408.1:c.1669-5T>A
- NM_001408409.1:c.1666-5T>A
- NM_001408410.1:c.1603-5T>A
- NM_001408411.1:c.1600-5T>A
- NM_001408412.1:c.1597-5T>A
- NM_001408413.1:c.1597-5T>A
- NM_001408414.1:c.1597-5T>A
- NM_001408415.1:c.1597-5T>A
- NM_001408416.1:c.1597-5T>A
- NM_001408418.1:c.1561-5T>A
- NM_001408419.1:c.1561-5T>A
- NM_001408420.1:c.1561-5T>A
- NM_001408421.1:c.1558-5T>A
- NM_001408422.1:c.1558-5T>A
- NM_001408423.1:c.1558-5T>A
- NM_001408424.1:c.1558-5T>A
- NM_001408425.1:c.1555-5T>A
- NM_001408426.1:c.1555-5T>A
- NM_001408427.1:c.1555-5T>A
- NM_001408428.1:c.1555-5T>A
- NM_001408429.1:c.1555-5T>A
- NM_001408430.1:c.1555-5T>A
- NM_001408431.1:c.1555-5T>A
- NM_001408432.1:c.1552-5T>A
- NM_001408433.1:c.1552-5T>A
- NM_001408434.1:c.1552-5T>A
- NM_001408435.1:c.1552-5T>A
- NM_001408436.1:c.1552-5T>A
- NM_001408437.1:c.1552-5T>A
- NM_001408438.1:c.1552-5T>A
- NM_001408439.1:c.1552-5T>A
- NM_001408440.1:c.1552-5T>A
- NM_001408441.1:c.1552-5T>A
- NM_001408442.1:c.1552-5T>A
- NM_001408443.1:c.1552-5T>A
- NM_001408444.1:c.1552-5T>A
- NM_001408445.1:c.1549-5T>A
- NM_001408446.1:c.1549-5T>A
- NM_001408447.1:c.1549-5T>A
- NM_001408448.1:c.1549-5T>A
- NM_001408450.1:c.1549-5T>A
- NM_001408451.1:c.1543-5T>A
- NM_001408452.1:c.1537-5T>A
- NM_001408453.1:c.1537-5T>A
- NM_001408454.1:c.1537-5T>A
- NM_001408455.1:c.1537-5T>A
- NM_001408456.1:c.1537-5T>A
- NM_001408457.1:c.1537-5T>A
- NM_001408458.1:c.1534-5T>A
- NM_001408459.1:c.1534-5T>A
- NM_001408460.1:c.1534-5T>A
- NM_001408461.1:c.1534-5T>A
- NM_001408462.1:c.1534-5T>A
- NM_001408463.1:c.1534-5T>A
- NM_001408464.1:c.1534-5T>A
- NM_001408465.1:c.1534-5T>A
- NM_001408466.1:c.1534-5T>A
- NM_001408467.1:c.1534-5T>A
- NM_001408468.1:c.1531-5T>A
- NM_001408469.1:c.1531-5T>A
- NM_001408470.1:c.1531-5T>A
- NM_001408472.1:c.1675-5T>A
- NM_001408473.1:c.1672-5T>A
- NM_001408474.1:c.1477-5T>A
- NM_001408475.1:c.1474-5T>A
- NM_001408476.1:c.1474-5T>A
- NM_001408478.1:c.1468-5T>A
- NM_001408479.1:c.1468-5T>A
- NM_001408480.1:c.1468-5T>A
- NM_001408481.1:c.1465-5T>A
- NM_001408482.1:c.1465-5T>A
- NM_001408483.1:c.1465-5T>A
- NM_001408484.1:c.1465-5T>A
- NM_001408485.1:c.1465-5T>A
- NM_001408489.1:c.1465-5T>A
- NM_001408490.1:c.1465-5T>A
- NM_001408491.1:c.1465-5T>A
- NM_001408492.1:c.1462-5T>A
- NM_001408493.1:c.1462-5T>A
- NM_001408494.1:c.1438-5T>A
- NM_001408495.1:c.1432-5T>A
- NM_001408496.1:c.1414-5T>A
- NM_001408497.1:c.1414-5T>A
- NM_001408498.1:c.1414-5T>A
- NM_001408499.1:c.1414-5T>A
- NM_001408500.1:c.1414-5T>A
- NM_001408501.1:c.1414-5T>A
- NM_001408502.1:c.1411-5T>A
- NM_001408503.1:c.1411-5T>A
- NM_001408504.1:c.1411-5T>A
- NM_001408505.1:c.1408-5T>A
- NM_001408506.1:c.1351-5T>A
- NM_001408507.1:c.1348-5T>A
- NM_001408508.1:c.1339-5T>A
- NM_001408509.1:c.1336-5T>A
- NM_001408510.1:c.1297-5T>A
- NM_001408511.1:c.1294-5T>A
- NM_001408512.1:c.1174-5T>A
- NM_001408513.1:c.1147-5T>A
- NM_001408514.1:c.839-3749T>A
- NM_007294.4:c.4987-5T>AMANE SELECT
- NM_007297.4:c.4846-5T>A
- NM_007298.4:c.1675-5T>A
- NM_007299.4:c.1675-5T>A
- NM_007300.4:c.5050-5T>A
- LRG_292t1:c.4987-5T>A
- LRG_292:g.150284T>A
- NC_000017.10:g.41219717A>T
- NM_007294.3:c.4987-5T>A
This HGVS expression did not pass validation- Links:
- dbSNP: rs397509214
- NCBI 1000 Genomes Browser:
- rs397509214
- Molecular consequence:
- NM_001407571.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.5053-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407582.1:c.5053-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407583.1:c.5050-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407585.1:c.5050-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407587.1:c.5050-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407590.1:c.5047-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407591.1:c.5047-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407593.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407594.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407596.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407597.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407598.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407602.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407603.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407605.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407610.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407611.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407612.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407613.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407614.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407615.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407616.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407617.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407618.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407619.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407620.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407621.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407622.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407623.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407624.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407625.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407626.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407627.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407628.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407629.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407630.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407631.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407632.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407633.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407634.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407635.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407636.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407637.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407638.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407639.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407640.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407641.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407642.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407644.1:c.4978-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407645.1:c.4978-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407646.1:c.4975-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407647.1:c.4972-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407648.1:c.4930-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407649.1:c.4927-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407652.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407653.1:c.4909-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407654.1:c.4909-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407655.1:c.4909-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407656.1:c.4906-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407657.1:c.4906-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407658.1:c.4906-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407659.1:c.4903-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407660.1:c.4903-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407661.1:c.4903-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407662.1:c.4903-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407663.1:c.4903-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407664.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407665.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407666.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407667.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407668.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407669.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407670.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407671.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407672.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407673.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407674.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407675.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407676.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407677.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407678.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407679.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407680.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407681.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407682.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407683.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407684.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407685.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407686.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407687.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407688.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407689.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407690.1:c.4855-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407691.1:c.4855-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407692.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407694.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407695.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407696.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407697.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407724.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407725.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407727.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407728.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407729.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407730.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407731.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407733.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407734.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407735.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407737.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407739.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407740.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407741.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407743.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407745.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407746.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407748.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407749.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407752.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407838.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407839.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407841.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407842.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407843.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407844.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407846.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407847.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407848.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407850.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407851.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407853.1:c.4840-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.4984-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.4981-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407862.1:c.4786-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407863.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407874.1:c.4780-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407875.1:c.4780-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407879.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407882.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407884.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407885.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407886.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407887.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407889.1:c.4777-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407894.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407895.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407896.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407897.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407899.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407900.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407904.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407906.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407907.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407908.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407909.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407910.1:c.4774-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407915.1:c.4771-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407916.1:c.4771-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407917.1:c.4771-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407918.1:c.4771-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407920.1:c.4723-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407921.1:c.4723-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407922.1:c.4723-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407923.1:c.4723-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.4723-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.4723-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407926.1:c.4723-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407927.1:c.4720-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.4720-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.4720-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407930.1:c.4720-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.4720-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.4720-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407933.1:c.4720-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407934.1:c.4717-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407935.1:c.4717-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.4717-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.4864-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.4861-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.4858-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.4843-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407946.1:c.4654-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407947.1:c.4654-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407948.1:c.4654-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407949.1:c.4654-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407950.1:c.4651-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407951.1:c.4651-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407952.1:c.4651-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407953.1:c.4651-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407954.1:c.4651-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407955.1:c.4651-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407956.1:c.4648-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407957.1:c.4648-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407958.1:c.4648-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.4606-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407960.1:c.4603-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407962.1:c.4603-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.4600-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407964.1:c.4525-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407965.1:c.4480-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.4099-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.4096-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407968.1:c.2383-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.2380-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.1744-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.1744-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.1741-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.1678-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.1678-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.1678-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.1678-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.1678-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.1678-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.1669-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.1669-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.1669-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.1666-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.1603-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.1600-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.1597-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.1597-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.1597-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.1597-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.1597-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.1561-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.1561-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.1561-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.1558-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.1558-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.1558-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.1558-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.1555-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.1555-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.1555-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.1555-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.1555-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.1555-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.1555-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.1552-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.1549-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.1549-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.1549-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.1549-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.1549-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.1543-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.1537-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.1537-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.1537-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.1537-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.1537-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.1537-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.1534-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.1531-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.1531-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.1531-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.1672-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.1477-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.1474-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.1474-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.1468-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.1468-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.1468-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.1465-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.1462-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.1462-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.1438-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.1432-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.1414-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.1414-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.1414-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.1414-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.1414-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.1414-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.1411-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.1411-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.1411-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.1408-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.1351-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.1348-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.1339-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.1336-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.1297-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.1294-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.1174-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.1147-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.839-3749T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007294.4:c.4987-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.4846-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.1675-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007300.4:c.5050-5T>A - intron variant - [Sequence Ontology: SO:0001627]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.4987-5T>A, a SPLICE REGION variant, produced a function score of -1.47, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002645641 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely pathogenic (Jul 24, 2018) | 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
Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frébourg T, Hardouin A, Tosi M.
J Med Genet. 2008 Jul;45(7):438-46. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18.
- PMID:
- 18424508
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, et al.
Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.
- PMID:
- 22505045
Details of each submission
From Ambry Genetics, SCV002645641.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
Description
The c.4987-5T>A intronic pathogenic mutation results from a T to A substitution 5 nucleotides upstream from coding exon 15 in the BRCA1 gene. This alteration has been reported in a large cohort of BRCA1 and BRCA2 mutation carriers (Rebbeck TR et al. Hum. Mutat., 2018 May;39:593-620). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site. Functional analyses using patient RNA have shown this alteration results in skipping of exon 17 (coding exon 15)(Bonnet C et al. J. Med. Genet., 2008 Jul;45:438-46; Houdayer C et al. Hum. Mutat., 2012 Aug;33:1228-38). This nucleotide position is highly conserved in available vertebrate species. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 26, 2024