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 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no 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

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)

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

Recent activity

Clear Turn Off Turn On

HKE2 (3)
PopSet

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

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	PubMed (3) [See all records that cite these PMIDs] 18424508, 22505045, 29446198 Citation Link

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

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

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

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

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.

PubMed [citation]

PMID:: 18424508

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

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.

PubMed [citation]

PMID:: 22505045

See all PubMed Citations (3)

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

ClinVar

Relating variation to medicine