ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)
Variation ID: 246021 Accession: VCV000246021.5
- Type and length
-
Duplication, 4 bp
- Location
-
Cytogenetic: 17q21.31 17: 43067624-43067625 (GRCh38) [ NCBI UCSC ] 17: 41219641-41219642 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 25, 2016 Jun 17, 2024 Dec 15, 2017 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5054_5057dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1687fs frameshift NM_001407571.1:c.4840_4843dup NP_001394500.1:p.Val1616Serfs frameshift NM_001407581.1:c.5119_5122dup NP_001394510.1:p.Val1709Serfs frameshift NM_001407582.1:c.5119_5122dup NP_001394511.1:p.Val1709Serfs frameshift NM_001407583.1:c.5116_5119dup NP_001394512.1:p.Val1708Serfs frameshift NM_001407585.1:c.5116_5119dup NP_001394514.1:p.Val1708Serfs frameshift NM_001407587.1:c.5116_5119dup NP_001394516.1:p.Val1708Serfs frameshift NM_001407590.1:c.5113_5116dup NP_001394519.1:p.Val1707Serfs frameshift NM_001407591.1:c.5113_5116dup NP_001394520.1:p.Val1707Serfs frameshift NM_001407593.1:c.5053_5056dup NP_001394522.1:p.Val1687Serfs frameshift NM_001407594.1:c.5053_5056dup NP_001394523.1:p.Val1687Serfs frameshift NM_001407596.1:c.5053_5056dup NP_001394525.1:p.Val1687Serfs frameshift NM_001407597.1:c.5053_5056dup NP_001394526.1:p.Val1687Serfs frameshift NM_001407598.1:c.5053_5056dup NP_001394527.1:p.Val1687Serfs frameshift NM_001407602.1:c.5053_5056dup NP_001394531.1:p.Val1687Serfs frameshift NM_001407603.1:c.5053_5056dup NP_001394532.1:p.Val1687Serfs frameshift NM_001407605.1:c.5053_5056dup NP_001394534.1:p.Val1687Serfs frameshift NM_001407610.1:c.5050_5053dup NP_001394539.1:p.Val1686Serfs frameshift NM_001407611.1:c.5050_5053dup NP_001394540.1:p.Val1686Serfs frameshift NM_001407612.1:c.5050_5053dup NP_001394541.1:p.Val1686Serfs frameshift NM_001407613.1:c.5050_5053dup NP_001394542.1:p.Val1686Serfs frameshift NM_001407614.1:c.5050_5053dup NP_001394543.1:p.Val1686Serfs frameshift NM_001407615.1:c.5050_5053dup NP_001394544.1:p.Val1686Serfs frameshift NM_001407616.1:c.5050_5053dup NP_001394545.1:p.Val1686Serfs frameshift NM_001407617.1:c.5050_5053dup NP_001394546.1:p.Val1686Serfs frameshift NM_001407618.1:c.5050_5053dup NP_001394547.1:p.Val1686Serfs frameshift NM_001407619.1:c.5050_5053dup NP_001394548.1:p.Val1686Serfs frameshift NM_001407620.1:c.5050_5053dup NP_001394549.1:p.Val1686Serfs frameshift NM_001407621.1:c.5050_5053dup NP_001394550.1:p.Val1686Serfs frameshift NM_001407622.1:c.5050_5053dup NP_001394551.1:p.Val1686Serfs frameshift NM_001407623.1:c.5050_5053dup NP_001394552.1:p.Val1686Serfs frameshift NM_001407624.1:c.5050_5053dup NP_001394553.1:p.Val1686Serfs frameshift NM_001407625.1:c.5050_5053dup NP_001394554.1:p.Val1686Serfs frameshift NM_001407626.1:c.5050_5053dup NP_001394555.1:p.Val1686Serfs frameshift NM_001407627.1:c.5047_5050dup NP_001394556.1:p.Val1685Serfs frameshift NM_001407628.1:c.5047_5050dup NP_001394557.1:p.Val1685Serfs frameshift NM_001407629.1:c.5047_5050dup NP_001394558.1:p.Val1685Serfs frameshift NM_001407630.1:c.5047_5050dup NP_001394559.1:p.Val1685Serfs frameshift NM_001407631.1:c.5047_5050dup NP_001394560.1:p.Val1685Serfs frameshift NM_001407632.1:c.5047_5050dup NP_001394561.1:p.Val1685Serfs frameshift NM_001407633.1:c.5047_5050dup NP_001394562.1:p.Val1685Serfs frameshift NM_001407634.1:c.5047_5050dup NP_001394563.1:p.Val1685Serfs frameshift NM_001407635.1:c.5047_5050dup NP_001394564.1:p.Val1685Serfs frameshift NM_001407636.1:c.5047_5050dup NP_001394565.1:p.Val1685Serfs frameshift NM_001407637.1:c.5047_5050dup NP_001394566.1:p.Val1685Serfs frameshift NM_001407638.1:c.5047_5050dup NP_001394567.1:p.Val1685Serfs frameshift NM_001407639.1:c.5047_5050dup NP_001394568.1:p.Val1685Serfs frameshift NM_001407640.1:c.5047_5050dup NP_001394569.1:p.Val1685Serfs frameshift NM_001407641.1:c.5047_5050dup NP_001394570.1:p.Val1685Serfs frameshift NM_001407642.1:c.5047_5050dup NP_001394571.1:p.Val1685Serfs frameshift NM_001407644.1:c.5044_5047dup NP_001394573.1:p.Val1684Serfs frameshift NM_001407645.1:c.5044_5047dup NP_001394574.1:p.Val1684Serfs frameshift NM_001407646.1:c.5041_5044dup NP_001394575.1:p.Val1683Serfs frameshift NM_001407647.1:c.5038_5041dup NP_001394576.1:p.Val1682Serfs frameshift NM_001407648.1:c.4996_4999dup NP_001394577.1:p.Val1668Serfs frameshift NM_001407649.1:c.4993_4996dup NP_001394578.1:p.Val1667Serfs frameshift NM_001407652.1:c.5053_5056dup NP_001394581.1:p.Val1687Serfs frameshift NM_001407653.1:c.4975_4978dup NP_001394582.1:p.Val1661Serfs frameshift NM_001407654.1:c.4975_4978dup NP_001394583.1:p.Val1661Serfs frameshift NM_001407655.1:c.4975_4978dup NP_001394584.1:p.Val1661Serfs frameshift NM_001407656.1:c.4972_4975dup NP_001394585.1:p.Val1660Serfs frameshift NM_001407657.1:c.4972_4975dup NP_001394586.1:p.Val1660Serfs frameshift NM_001407658.1:c.4972_4975dup NP_001394587.1:p.Val1660Serfs frameshift NM_001407659.1:c.4969_4972dup NP_001394588.1:p.Val1659Serfs frameshift NM_001407660.1:c.4969_4972dup NP_001394589.1:p.Val1659Serfs frameshift NM_001407661.1:c.4969_4972dup NP_001394590.1:p.Val1659Serfs frameshift NM_001407662.1:c.4969_4972dup NP_001394591.1:p.Val1659Serfs frameshift NM_001407663.1:c.4969_4972dup NP_001394592.1:p.Val1659Serfs frameshift NM_001407664.1:c.4930_4933dup NP_001394593.1:p.Val1646Serfs frameshift NM_001407665.1:c.4930_4933dup NP_001394594.1:p.Val1646Serfs frameshift NM_001407666.1:c.4930_4933dup NP_001394595.1:p.Val1646Serfs frameshift NM_001407667.1:c.4930_4933dup NP_001394596.1:p.Val1646Serfs frameshift NM_001407668.1:c.4930_4933dup NP_001394597.1:p.Val1646Serfs frameshift NM_001407669.1:c.4930_4933dup NP_001394598.1:p.Val1646Serfs frameshift NM_001407670.1:c.4927_4930dup NP_001394599.1:p.Val1645Serfs frameshift NM_001407671.1:c.4927_4930dup NP_001394600.1:p.Val1645Serfs frameshift NM_001407672.1:c.4927_4930dup NP_001394601.1:p.Val1645Serfs frameshift NM_001407673.1:c.4927_4930dup NP_001394602.1:p.Val1645Serfs frameshift NM_001407674.1:c.4927_4930dup NP_001394603.1:p.Val1645Serfs frameshift NM_001407675.1:c.4927_4930dup NP_001394604.1:p.Val1645Serfs frameshift NM_001407676.1:c.4927_4930dup NP_001394605.1:p.Val1645Serfs frameshift NM_001407677.1:c.4927_4930dup NP_001394606.1:p.Val1645Serfs frameshift NM_001407678.1:c.4927_4930dup NP_001394607.1:p.Val1645Serfs frameshift NM_001407679.1:c.4927_4930dup NP_001394608.1:p.Val1645Serfs frameshift NM_001407680.1:c.4927_4930dup NP_001394609.1:p.Val1645Serfs frameshift NM_001407681.1:c.4924_4927dup NP_001394610.1:p.Val1644Serfs frameshift NM_001407682.1:c.4924_4927dup NP_001394611.1:p.Val1644Serfs frameshift NM_001407683.1:c.4924_4927dup NP_001394612.1:p.Val1644Serfs frameshift NM_001407684.1:c.5053_5056dup NP_001394613.1:p.Val1687Serfs frameshift NM_001407685.1:c.4924_4927dup NP_001394614.1:p.Val1644Serfs frameshift NM_001407686.1:c.4924_4927dup NP_001394615.1:p.Val1644Serfs frameshift NM_001407687.1:c.4924_4927dup NP_001394616.1:p.Val1644Serfs frameshift NM_001407688.1:c.4924_4927dup NP_001394617.1:p.Val1644Serfs frameshift NM_001407689.1:c.4924_4927dup NP_001394618.1:p.Val1644Serfs frameshift NM_001407690.1:c.4921_4924dup NP_001394619.1:p.Val1643Serfs frameshift NM_001407691.1:c.4921_4924dup NP_001394620.1:p.Val1643Serfs frameshift NM_001407692.1:c.4912_4915dup NP_001394621.1:p.Val1640Serfs frameshift NM_001407694.1:c.4912_4915dup NP_001394623.1:p.Val1640Serfs frameshift NM_001407695.1:c.4912_4915dup NP_001394624.1:p.Val1640Serfs frameshift NM_001407696.1:c.4912_4915dup NP_001394625.1:p.Val1640Serfs frameshift NM_001407697.1:c.4912_4915dup NP_001394626.1:p.Val1640Serfs frameshift NM_001407698.1:c.4912_4915dup NP_001394627.1:p.Val1640Serfs frameshift NM_001407724.1:c.4912_4915dup NP_001394653.1:p.Val1640Serfs frameshift NM_001407725.1:c.4912_4915dup NP_001394654.1:p.Val1640Serfs frameshift NM_001407726.1:c.4912_4915dup NP_001394655.1:p.Val1640Serfs frameshift NM_001407727.1:c.4912_4915dup NP_001394656.1:p.Val1640Serfs frameshift NM_001407728.1:c.4912_4915dup NP_001394657.1:p.Val1640Serfs frameshift NM_001407729.1:c.4912_4915dup NP_001394658.1:p.Val1640Serfs frameshift NM_001407730.1:c.4912_4915dup NP_001394659.1:p.Val1640Serfs frameshift NM_001407731.1:c.4912_4915dup NP_001394660.1:p.Val1640Serfs frameshift NM_001407732.1:c.4909_4912dup NP_001394661.1:p.Val1639Serfs frameshift NM_001407733.1:c.4909_4912dup NP_001394662.1:p.Val1639Serfs frameshift NM_001407734.1:c.4909_4912dup NP_001394663.1:p.Val1639Serfs frameshift NM_001407735.1:c.4909_4912dup NP_001394664.1:p.Val1639Serfs frameshift NM_001407736.1:c.4909_4912dup NP_001394665.1:p.Val1639Serfs frameshift NM_001407737.1:c.4909_4912dup NP_001394666.1:p.Val1639Serfs frameshift NM_001407738.1:c.4909_4912dup NP_001394667.1:p.Val1639Serfs frameshift NM_001407739.1:c.4909_4912dup NP_001394668.1:p.Val1639Serfs frameshift NM_001407740.1:c.4909_4912dup NP_001394669.1:p.Val1639Serfs frameshift NM_001407741.1:c.4909_4912dup NP_001394670.1:p.Val1639Serfs frameshift NM_001407742.1:c.4909_4912dup NP_001394671.1:p.Val1639Serfs frameshift NM_001407743.1:c.4909_4912dup NP_001394672.1:p.Val1639Serfs frameshift NM_001407744.1:c.4909_4912dup NP_001394673.1:p.Val1639Serfs frameshift NM_001407745.1:c.4909_4912dup NP_001394674.1:p.Val1639Serfs frameshift NM_001407746.1:c.4909_4912dup NP_001394675.1:p.Val1639Serfs frameshift NM_001407747.1:c.4909_4912dup NP_001394676.1:p.Val1639Serfs frameshift NM_001407748.1:c.4909_4912dup NP_001394677.1:p.Val1639Serfs frameshift NM_001407749.1:c.4909_4912dup NP_001394678.1:p.Val1639Serfs frameshift NM_001407750.1:c.4909_4912dup NP_001394679.1:p.Val1639Serfs frameshift NM_001407751.1:c.4909_4912dup NP_001394680.1:p.Val1639Serfs frameshift NM_001407752.1:c.4909_4912dup NP_001394681.1:p.Val1639Serfs frameshift NM_001407838.1:c.4906_4909dup NP_001394767.1:p.Val1638Serfs frameshift NM_001407839.1:c.4906_4909dup NP_001394768.1:p.Val1638Serfs frameshift NM_001407841.1:c.4906_4909dup NP_001394770.1:p.Val1638Serfs frameshift NM_001407842.1:c.4906_4909dup NP_001394771.1:p.Val1638Serfs frameshift NM_001407843.1:c.4906_4909dup NP_001394772.1:p.Val1638Serfs frameshift NM_001407844.1:c.4906_4909dup NP_001394773.1:p.Val1638Serfs frameshift NM_001407845.1:c.4906_4909dup NP_001394774.1:p.Val1638Serfs frameshift NM_001407846.1:c.4906_4909dup NP_001394775.1:p.Val1638Serfs frameshift NM_001407847.1:c.4906_4909dup NP_001394776.1:p.Val1638Serfs frameshift NM_001407848.1:c.4906_4909dup NP_001394777.1:p.Val1638Serfs frameshift NM_001407849.1:c.4906_4909dup NP_001394778.1:p.Val1638Serfs frameshift NM_001407850.1:c.4906_4909dup NP_001394779.1:p.Val1638Serfs frameshift NM_001407851.1:c.4906_4909dup NP_001394780.1:p.Val1638Serfs frameshift NM_001407852.1:c.4906_4909dup NP_001394781.1:p.Val1638Serfs frameshift NM_001407853.1:c.4906_4909dup NP_001394782.1:p.Val1638Serfs frameshift NM_001407854.1:c.5053_5056dup NP_001394783.1:p.Val1687Serfs frameshift NM_001407858.1:c.5050_5053dup NP_001394787.1:p.Val1686Serfs frameshift NM_001407859.1:c.5050_5053dup NP_001394788.1:p.Val1686Serfs frameshift NM_001407860.1:c.5050_5053dup NP_001394789.1:p.Val1686Serfs frameshift NM_001407861.1:c.5047_5050dup NP_001394790.1:p.Val1685Serfs frameshift NM_001407862.1:c.4852_4855dup NP_001394791.1:p.Val1620Serfs frameshift NM_001407863.1:c.4927_4930dup NP_001394792.1:p.Val1645Serfs frameshift NM_001407874.1:c.4846_4849dup NP_001394803.1:p.Val1618Serfs frameshift NM_001407875.1:c.4846_4849dup NP_001394804.1:p.Val1618Serfs frameshift NM_001407879.1:c.4843_4846dup NP_001394808.1:p.Val1617Serfs frameshift NM_001407881.1:c.4843_4846dup NP_001394810.1:p.Val1617Serfs frameshift NM_001407882.1:c.4843_4846dup NP_001394811.1:p.Val1617Serfs frameshift NM_001407884.1:c.4843_4846dup NP_001394813.1:p.Val1617Serfs frameshift NM_001407885.1:c.4843_4846dup NP_001394814.1:p.Val1617Serfs frameshift NM_001407886.1:c.4843_4846dup NP_001394815.1:p.Val1617Serfs frameshift NM_001407887.1:c.4843_4846dup NP_001394816.1:p.Val1617Serfs frameshift NM_001407889.1:c.4843_4846dup NP_001394818.1:p.Val1617Serfs frameshift NM_001407894.1:c.4840_4843dup NP_001394823.1:p.Val1616Serfs frameshift NM_001407895.1:c.4840_4843dup NP_001394824.1:p.Val1616Serfs frameshift NM_001407896.1:c.4840_4843dup NP_001394825.1:p.Val1616Serfs frameshift NM_001407897.1:c.4840_4843dup NP_001394826.1:p.Val1616Serfs frameshift NM_001407898.1:c.4840_4843dup NP_001394827.1:p.Val1616Serfs frameshift NM_001407899.1:c.4840_4843dup NP_001394828.1:p.Val1616Serfs frameshift NM_001407900.1:c.4840_4843dup NP_001394829.1:p.Val1616Serfs frameshift NM_001407902.1:c.4840_4843dup NP_001394831.1:p.Val1616Serfs frameshift NM_001407904.1:c.4840_4843dup NP_001394833.1:p.Val1616Serfs frameshift NM_001407906.1:c.4840_4843dup NP_001394835.1:p.Val1616Serfs frameshift NM_001407907.1:c.4840_4843dup NP_001394836.1:p.Val1616Serfs frameshift NM_001407908.1:c.4840_4843dup NP_001394837.1:p.Val1616Serfs frameshift NM_001407909.1:c.4840_4843dup NP_001394838.1:p.Val1616Serfs frameshift NM_001407910.1:c.4840_4843dup NP_001394839.1:p.Val1616Serfs frameshift NM_001407915.1:c.4837_4840dup NP_001394844.1:p.Val1615Serfs frameshift NM_001407916.1:c.4837_4840dup NP_001394845.1:p.Val1615Serfs frameshift NM_001407917.1:c.4837_4840dup NP_001394846.1:p.Val1615Serfs frameshift NM_001407918.1:c.4837_4840dup NP_001394847.1:p.Val1615Serfs frameshift NM_001407919.1:c.4930_4933dup NP_001394848.1:p.Val1646Serfs frameshift NM_001407920.1:c.4789_4792dup NP_001394849.1:p.Val1599Serfs frameshift NM_001407921.1:c.4789_4792dup NP_001394850.1:p.Val1599Serfs frameshift NM_001407922.1:c.4789_4792dup NP_001394851.1:p.Val1599Serfs frameshift NM_001407923.1:c.4789_4792dup NP_001394852.1:p.Val1599Serfs frameshift NM_001407924.1:c.4789_4792dup NP_001394853.1:p.Val1599Serfs frameshift NM_001407925.1:c.4789_4792dup NP_001394854.1:p.Val1599Serfs frameshift NM_001407926.1:c.4789_4792dup NP_001394855.1:p.Val1599Serfs frameshift NM_001407927.1:c.4786_4789dup NP_001394856.1:p.Val1598Serfs frameshift NM_001407928.1:c.4786_4789dup NP_001394857.1:p.Val1598Serfs frameshift NM_001407929.1:c.4786_4789dup NP_001394858.1:p.Val1598Serfs frameshift NM_001407930.1:c.4786_4789dup NP_001394859.1:p.Val1598Serfs frameshift NM_001407931.1:c.4786_4789dup NP_001394860.1:p.Val1598Serfs frameshift NM_001407932.1:c.4786_4789dup NP_001394861.1:p.Val1598Serfs frameshift NM_001407933.1:c.4786_4789dup NP_001394862.1:p.Val1598Serfs frameshift NM_001407934.1:c.4783_4786dup NP_001394863.1:p.Val1597Serfs frameshift NM_001407935.1:c.4783_4786dup NP_001394864.1:p.Val1597Serfs frameshift NM_001407936.1:c.4783_4786dup NP_001394865.1:p.Val1597Serfs frameshift NM_001407937.1:c.4930_4933dup NP_001394866.1:p.Val1646Serfs frameshift NM_001407938.1:c.4930_4933dup NP_001394867.1:p.Val1646Serfs frameshift NM_001407939.1:c.4927_4930dup NP_001394868.1:p.Val1645Serfs frameshift NM_001407940.1:c.4927_4930dup NP_001394869.1:p.Val1645Serfs frameshift NM_001407941.1:c.4924_4927dup NP_001394870.1:p.Val1644Serfs frameshift NM_001407942.1:c.4912_4915dup NP_001394871.1:p.Val1640Serfs frameshift NM_001407943.1:c.4909_4912dup NP_001394872.1:p.Val1639Serfs frameshift NM_001407944.1:c.4909_4912dup NP_001394873.1:p.Val1639Serfs frameshift NM_001407945.1:c.4909_4912dup NP_001394874.1:p.Val1639Serfs frameshift NM_001407946.1:c.4720_4723dup NP_001394875.1:p.Val1576Serfs frameshift NM_001407947.1:c.4720_4723dup NP_001394876.1:p.Val1576Serfs frameshift NM_001407948.1:c.4720_4723dup NP_001394877.1:p.Val1576Serfs frameshift NM_001407949.1:c.4720_4723dup NP_001394878.1:p.Val1576Serfs frameshift NM_001407950.1:c.4717_4720dup NP_001394879.1:p.Val1575Serfs frameshift NM_001407951.1:c.4717_4720dup NP_001394880.1:p.Val1575Serfs frameshift NM_001407952.1:c.4717_4720dup NP_001394881.1:p.Val1575Serfs frameshift NM_001407953.1:c.4717_4720dup NP_001394882.1:p.Val1575Serfs frameshift NM_001407954.1:c.4717_4720dup NP_001394883.1:p.Val1575Serfs frameshift NM_001407955.1:c.4717_4720dup NP_001394884.1:p.Val1575Serfs frameshift NM_001407956.1:c.4714_4717dup NP_001394885.1:p.Val1574Serfs frameshift NM_001407957.1:c.4714_4717dup NP_001394886.1:p.Val1574Serfs frameshift NM_001407958.1:c.4714_4717dup NP_001394887.1:p.Val1574Serfs frameshift NM_001407959.1:c.4672_4675dup NP_001394888.1:p.Val1560Serfs frameshift NM_001407960.1:c.4669_4672dup NP_001394889.1:p.Val1559Serfs frameshift NM_001407962.1:c.4669_4672dup NP_001394891.1:p.Val1559Serfs frameshift NM_001407963.1:c.4666_4669dup NP_001394892.1:p.Val1558Serfs frameshift NM_001407964.1:c.4591_4594dup NP_001394893.1:p.Val1533Serfs frameshift NM_001407965.1:c.4546_4549dup NP_001394894.1:p.Val1518Serfs frameshift NM_001407966.1:c.4165_4168dup NP_001394895.1:p.Val1391Serfs frameshift NM_001407967.1:c.4162_4165dup NP_001394896.1:p.Val1390Serfs frameshift NM_001407968.1:c.2449_2452dup NP_001394897.1:p.Val819Serfs frameshift NM_001407969.1:c.2446_2449dup NP_001394898.1:p.Val818Serfs frameshift NM_001407970.1:c.1810_1813dup NP_001394899.1:p.Val606Serfs frameshift NM_001407971.1:c.1810_1813dup NP_001394900.1:p.Val606Serfs frameshift NM_001407972.1:c.1807_1810dup NP_001394901.1:p.Val605Serfs frameshift NM_001407973.1:c.1744_1747dup NP_001394902.1:p.Val584Serfs frameshift NM_001407974.1:c.1744_1747dup NP_001394903.1:p.Val584Serfs frameshift NM_001407975.1:c.1744_1747dup NP_001394904.1:p.Val584Serfs frameshift NM_001407976.1:c.1744_1747dup NP_001394905.1:p.Val584Serfs frameshift NM_001407977.1:c.1744_1747dup NP_001394906.1:p.Val584Serfs frameshift NM_001407978.1:c.1744_1747dup NP_001394907.1:p.Val584Serfs frameshift NM_001407979.1:c.1741_1744dup NP_001394908.1:p.Val583Serfs frameshift NM_001407980.1:c.1741_1744dup NP_001394909.1:p.Val583Serfs frameshift NM_001407981.1:c.1741_1744dup NP_001394910.1:p.Val583Serfs frameshift NM_001407982.1:c.1741_1744dup NP_001394911.1:p.Val583Serfs frameshift NM_001407983.1:c.1741_1744dup NP_001394912.1:p.Val583Serfs frameshift NM_001407984.1:c.1741_1744dup NP_001394913.1:p.Val583Serfs frameshift NM_001407985.1:c.1741_1744dup NP_001394914.1:p.Val583Serfs frameshift NM_001407986.1:c.1741_1744dup NP_001394915.1:p.Val583Serfs frameshift NM_001407990.1:c.1741_1744dup NP_001394919.1:p.Val583Serfs frameshift NM_001407991.1:c.1741_1744dup NP_001394920.1:p.Val583Serfs frameshift NM_001407992.1:c.1741_1744dup NP_001394921.1:p.Val583Serfs frameshift NM_001407993.1:c.1741_1744dup NP_001394922.1:p.Val583Serfs frameshift NM_001408392.1:c.1738_1741dup NP_001395321.1:p.Val582Serfs frameshift NM_001408396.1:c.1738_1741dup NP_001395325.1:p.Val582Serfs frameshift NM_001408397.1:c.1738_1741dup NP_001395326.1:p.Val582Serfs frameshift NM_001408398.1:c.1738_1741dup NP_001395327.1:p.Val582Serfs frameshift NM_001408399.1:c.1738_1741dup NP_001395328.1:p.Val582Serfs frameshift NM_001408400.1:c.1738_1741dup NP_001395329.1:p.Val582Serfs frameshift NM_001408401.1:c.1738_1741dup NP_001395330.1:p.Val582Serfs frameshift NM_001408402.1:c.1738_1741dup NP_001395331.1:p.Val582Serfs frameshift NM_001408403.1:c.1738_1741dup NP_001395332.1:p.Val582Serfs frameshift NM_001408404.1:c.1738_1741dup NP_001395333.1:p.Val582Serfs frameshift NM_001408406.1:c.1735_1738dup NP_001395335.1:p.Val581Serfs frameshift NM_001408407.1:c.1735_1738dup NP_001395336.1:p.Val581Serfs frameshift NM_001408408.1:c.1735_1738dup NP_001395337.1:p.Val581Serfs frameshift NM_001408409.1:c.1732_1735dup NP_001395338.1:p.Val580Serfs frameshift NM_001408410.1:c.1669_1672dup NP_001395339.1:p.Val559Serfs frameshift NM_001408411.1:c.1666_1669dup NP_001395340.1:p.Val558Serfs frameshift NM_001408412.1:c.1663_1666dup NP_001395341.1:p.Val557Serfs frameshift NM_001408413.1:c.1663_1666dup NP_001395342.1:p.Val557Serfs frameshift NM_001408414.1:c.1663_1666dup NP_001395343.1:p.Val557Serfs frameshift NM_001408415.1:c.1663_1666dup NP_001395344.1:p.Val557Serfs frameshift NM_001408416.1:c.1663_1666dup NP_001395345.1:p.Val557Serfs frameshift NM_001408418.1:c.1627_1630dup NP_001395347.1:p.Val545Serfs frameshift NM_001408419.1:c.1627_1630dup NP_001395348.1:p.Val545Serfs frameshift NM_001408420.1:c.1627_1630dup NP_001395349.1:p.Val545Serfs frameshift NM_001408421.1:c.1624_1627dup NP_001395350.1:p.Val544Serfs frameshift NM_001408422.1:c.1624_1627dup NP_001395351.1:p.Val544Serfs frameshift NM_001408423.1:c.1624_1627dup NP_001395352.1:p.Val544Serfs frameshift NM_001408424.1:c.1624_1627dup NP_001395353.1:p.Val544Serfs frameshift NM_001408425.1:c.1621_1624dup NP_001395354.1:p.Val543Serfs frameshift NM_001408426.1:c.1621_1624dup NP_001395355.1:p.Val543Serfs frameshift NM_001408427.1:c.1621_1624dup NP_001395356.1:p.Val543Serfs frameshift NM_001408428.1:c.1621_1624dup NP_001395357.1:p.Val543Serfs frameshift NM_001408429.1:c.1621_1624dup NP_001395358.1:p.Val543Serfs frameshift NM_001408430.1:c.1621_1624dup NP_001395359.1:p.Val543Serfs frameshift NM_001408431.1:c.1621_1624dup NP_001395360.1:p.Val543Serfs frameshift NM_001408432.1:c.1618_1621dup NP_001395361.1:p.Val542Serfs frameshift NM_001408433.1:c.1618_1621dup NP_001395362.1:p.Val542Serfs frameshift NM_001408434.1:c.1618_1621dup NP_001395363.1:p.Val542Serfs frameshift NM_001408435.1:c.1618_1621dup NP_001395364.1:p.Val542Serfs frameshift NM_001408436.1:c.1618_1621dup NP_001395365.1:p.Val542Serfs frameshift NM_001408437.1:c.1618_1621dup NP_001395366.1:p.Val542Serfs frameshift NM_001408438.1:c.1618_1621dup NP_001395367.1:p.Val542Serfs frameshift NM_001408439.1:c.1618_1621dup NP_001395368.1:p.Val542Serfs frameshift NM_001408440.1:c.1618_1621dup NP_001395369.1:p.Val542Serfs frameshift NM_001408441.1:c.1618_1621dup NP_001395370.1:p.Val542Serfs frameshift NM_001408442.1:c.1618_1621dup NP_001395371.1:p.Val542Serfs frameshift NM_001408443.1:c.1618_1621dup NP_001395372.1:p.Val542Serfs frameshift NM_001408444.1:c.1618_1621dup NP_001395373.1:p.Val542Serfs frameshift NM_001408445.1:c.1615_1618dup NP_001395374.1:p.Val541Serfs frameshift NM_001408446.1:c.1615_1618dup NP_001395375.1:p.Val541Serfs frameshift NM_001408447.1:c.1615_1618dup NP_001395376.1:p.Val541Serfs frameshift NM_001408448.1:c.1615_1618dup NP_001395377.1:p.Val541Serfs frameshift NM_001408450.1:c.1615_1618dup NP_001395379.1:p.Val541Serfs frameshift NM_001408451.1:c.1609_1612dup NP_001395380.1:p.Val539Serfs frameshift NM_001408452.1:c.1603_1606dup NP_001395381.1:p.Val537Serfs frameshift NM_001408453.1:c.1603_1606dup NP_001395382.1:p.Val537Serfs frameshift NM_001408454.1:c.1603_1606dup NP_001395383.1:p.Val537Serfs frameshift NM_001408455.1:c.1603_1606dup NP_001395384.1:p.Val537Serfs frameshift NM_001408456.1:c.1603_1606dup NP_001395385.1:p.Val537Serfs frameshift NM_001408457.1:c.1603_1606dup NP_001395386.1:p.Val537Serfs frameshift NM_001408458.1:c.1600_1603dup NP_001395387.1:p.Val536Serfs frameshift NM_001408459.1:c.1600_1603dup NP_001395388.1:p.Val536Serfs frameshift NM_001408460.1:c.1600_1603dup NP_001395389.1:p.Val536Serfs frameshift NM_001408461.1:c.1600_1603dup NP_001395390.1:p.Val536Serfs frameshift NM_001408462.1:c.1600_1603dup NP_001395391.1:p.Val536Serfs frameshift NM_001408463.1:c.1600_1603dup NP_001395392.1:p.Val536Serfs frameshift NM_001408464.1:c.1600_1603dup NP_001395393.1:p.Val536Serfs frameshift NM_001408465.1:c.1600_1603dup NP_001395394.1:p.Val536Serfs frameshift NM_001408466.1:c.1600_1603dup NP_001395395.1:p.Val536Serfs frameshift NM_001408467.1:c.1600_1603dup NP_001395396.1:p.Val536Serfs frameshift NM_001408468.1:c.1597_1600dup NP_001395397.1:p.Val535Serfs frameshift NM_001408469.1:c.1597_1600dup NP_001395398.1:p.Val535Serfs frameshift NM_001408470.1:c.1597_1600dup NP_001395399.1:p.Val535Serfs frameshift NM_001408472.1:c.1741_1744dup NP_001395401.1:p.Val583Serfs frameshift NM_001408473.1:c.1738_1741dup NP_001395402.1:p.Val582Serfs frameshift NM_001408474.1:c.1543_1546dup NP_001395403.1:p.Val517Serfs frameshift NM_001408475.1:c.1540_1543dup NP_001395404.1:p.Val516Serfs frameshift NM_001408476.1:c.1540_1543dup NP_001395405.1:p.Val516Serfs frameshift NM_001408478.1:c.1534_1537dup NP_001395407.1:p.Val514Serfs frameshift NM_001408479.1:c.1534_1537dup NP_001395408.1:p.Val514Serfs frameshift NM_001408480.1:c.1534_1537dup NP_001395409.1:p.Val514Serfs frameshift NM_001408481.1:c.1531_1534dup NP_001395410.1:p.Val513Serfs frameshift NM_001408482.1:c.1531_1534dup NP_001395411.1:p.Val513Serfs frameshift NM_001408483.1:c.1531_1534dup NP_001395412.1:p.Val513Serfs frameshift NM_001408484.1:c.1531_1534dup NP_001395413.1:p.Val513Serfs frameshift NM_001408485.1:c.1531_1534dup NP_001395414.1:p.Val513Serfs frameshift NM_001408489.1:c.1531_1534dup NP_001395418.1:p.Val513Serfs frameshift NM_001408490.1:c.1531_1534dup NP_001395419.1:p.Val513Serfs frameshift NM_001408491.1:c.1531_1534dup NP_001395420.1:p.Val513Serfs frameshift NM_001408492.1:c.1528_1531dup NP_001395421.1:p.Val512Serfs frameshift NM_001408493.1:c.1528_1531dup NP_001395422.1:p.Val512Serfs frameshift NM_001408494.1:c.1504_1507dup NP_001395423.1:p.Val504Serfs frameshift NM_001408495.1:c.1498_1501dup NP_001395424.1:p.Val502Serfs frameshift NM_001408496.1:c.1480_1483dup NP_001395425.1:p.Val496Serfs frameshift NM_001408497.1:c.1480_1483dup NP_001395426.1:p.Val496Serfs frameshift NM_001408498.1:c.1480_1483dup NP_001395427.1:p.Val496Serfs frameshift NM_001408499.1:c.1480_1483dup NP_001395428.1:p.Val496Serfs frameshift NM_001408500.1:c.1480_1483dup NP_001395429.1:p.Val496Serfs frameshift NM_001408501.1:c.1480_1483dup NP_001395430.1:p.Val496Serfs frameshift NM_001408502.1:c.1477_1480dup NP_001395431.1:p.Val495Serfs frameshift NM_001408503.1:c.1477_1480dup NP_001395432.1:p.Val495Serfs frameshift NM_001408504.1:c.1477_1480dup NP_001395433.1:p.Val495Serfs frameshift NM_001408505.1:c.1474_1477dup NP_001395434.1:p.Val494Serfs frameshift NM_001408506.1:c.1417_1420dup NP_001395435.1:p.Val475Serfs frameshift NM_001408507.1:c.1414_1417dup NP_001395436.1:p.Val474Serfs frameshift NM_001408508.1:c.1405_1408dup NP_001395437.1:p.Val471Serfs frameshift NM_001408509.1:c.1402_1405dup NP_001395438.1:p.Val470Serfs frameshift NM_001408510.1:c.1363_1366dup NP_001395439.1:p.Val457Serfs frameshift NM_001408511.1:c.1360_1363dup NP_001395440.1:p.Val456Serfs frameshift NM_001408512.1:c.1240_1243dup NP_001395441.1:p.Val416Serfs frameshift NM_001408513.1:c.1213_1216dup NP_001395442.1:p.Val407Serfs frameshift NM_007294.3:c.5054_5057dupCTCA frameshift NM_007297.4:c.4913_4916dup NP_009228.2:p.Val1640fs frameshift NM_007298.4:c.1741_1744dup NP_009229.2:p.Val583Serfs frameshift NM_007299.4:c.1742_1745dup NP_009230.2:p.Val583fs frameshift NM_007300.4:c.5117_5120dup NP_009231.2:p.Val1708fs frameshift NM_007304.2:c.1741_1744dup NP_009235.2:p.Val583Serfs frameshift NR_027676.2:n.5231_5234dup non-coding transcript variant NC_000017.11:g.43067626_43067629dup NC_000017.10:g.41219643_41219646dup NG_005905.2:g.150356_150359dup LRG_292:g.150356_150359dup LRG_292t1:c.5053_5056dup LRG_292p1:p.Val1687Serfs - Protein change
- V1640fs, V1708fs, V1687fs, V583fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067624:TGAGT:TGAGTGAGT
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13029 | 14833 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Likely pathogenic (1) |
criteria provided, single submitter
|
Oct 22, 2015 | RCV000236593.2 | |
Pathogenic (2) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000660970.4 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Dec 15, 2017)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000783209.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Likely pathogenic
(Oct 22, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000293300.5
First in ClinVar: Jul 25, 2016 Last updated: Jul 25, 2016 |
Comment:
This duplication of 4 nucleotides in BRCA1 is denoted c.5054_5057dupCTCA at the cDNA level and p.Val1687SerfsX9 (V1687SfsX9) at the protein level. The normal sequence, with … (more)
This duplication of 4 nucleotides in BRCA1 is denoted c.5054_5057dupCTCA at the cDNA level and p.Val1687SerfsX9 (V1687SfsX9) at the protein level. The normal sequence, with the bases that are duplicated in braces, is ACTA[CTCA]TGTT. The duplication causes a frameshift, which changes a Valine to a Serine at codon 1687, and creates a premature stop codon at position 9 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this duplication to be a likely pathogenic variant. (less)
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Likely pathogenic
(Feb 10, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215168.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs879254050 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.