ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4891del (p.Ser1631fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4891del (p.Ser1631fs)
Variation ID: 266504 Accession: VCV000266504.7
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071023 (GRCh38) [ NCBI UCSC ] 17: 41223040 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4891del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1631fs frameshift NM_001407571.1:c.4676delA NP_001394500.1:p.Ser1560Valfs frameshift NM_001407581.1:c.4955delA NP_001394510.1:p.Ser1653Valfs frameshift NM_001407582.1:c.4955delA NP_001394511.1:p.Ser1653Valfs frameshift NM_001407583.1:c.4952delA NP_001394512.1:p.Ser1652Valfs frameshift NM_001407585.1:c.4952delA NP_001394514.1:p.Ser1652Valfs frameshift NM_001407587.1:c.4952delA NP_001394516.1:p.Ser1652Valfs frameshift NM_001407590.1:c.4949delA NP_001394519.1:p.Ser1651Valfs frameshift NM_001407591.1:c.4949delA NP_001394520.1:p.Ser1651Valfs frameshift NM_001407593.1:c.4889delA NP_001394522.1:p.Ser1631Valfs frameshift NM_001407594.1:c.4889delA NP_001394523.1:p.Ser1631Valfs frameshift NM_001407596.1:c.4889delA NP_001394525.1:p.Ser1631Valfs frameshift NM_001407597.1:c.4889delA NP_001394526.1:p.Ser1631Valfs frameshift NM_001407598.1:c.4889delA NP_001394527.1:p.Ser1631Valfs frameshift NM_001407602.1:c.4889delA NP_001394531.1:p.Ser1631Valfs frameshift NM_001407603.1:c.4889delA NP_001394532.1:p.Ser1631Valfs frameshift NM_001407605.1:c.4889delA NP_001394534.1:p.Ser1631Valfs frameshift NM_001407610.1:c.4886delA NP_001394539.1:p.Ser1630Valfs frameshift NM_001407611.1:c.4886delA NP_001394540.1:p.Ser1630Valfs frameshift NM_001407612.1:c.4886delA NP_001394541.1:p.Ser1630Valfs frameshift NM_001407613.1:c.4886delA NP_001394542.1:p.Ser1630Valfs frameshift NM_001407614.1:c.4886delA NP_001394543.1:p.Ser1630Valfs frameshift NM_001407615.1:c.4886delA NP_001394544.1:p.Ser1630Valfs frameshift NM_001407616.1:c.4886delA NP_001394545.1:p.Ser1630Valfs frameshift NM_001407617.1:c.4886delA NP_001394546.1:p.Ser1630Valfs frameshift NM_001407618.1:c.4886delA NP_001394547.1:p.Ser1630Valfs frameshift NM_001407619.1:c.4886delA NP_001394548.1:p.Ser1630Valfs frameshift NM_001407620.1:c.4886delA NP_001394549.1:p.Ser1630Valfs frameshift NM_001407621.1:c.4886delA NP_001394550.1:p.Ser1630Valfs frameshift NM_001407622.1:c.4886delA NP_001394551.1:p.Ser1630Valfs frameshift NM_001407623.1:c.4886delA NP_001394552.1:p.Ser1630Valfs frameshift NM_001407624.1:c.4886delA NP_001394553.1:p.Ser1630Valfs frameshift NM_001407625.1:c.4886delA NP_001394554.1:p.Ser1630Valfs frameshift NM_001407626.1:c.4886delA NP_001394555.1:p.Ser1630Valfs frameshift NM_001407627.1:c.4883delA NP_001394556.1:p.Ser1629Valfs frameshift NM_001407628.1:c.4883delA NP_001394557.1:p.Ser1629Valfs frameshift NM_001407629.1:c.4883delA NP_001394558.1:p.Ser1629Valfs frameshift NM_001407630.1:c.4883delA NP_001394559.1:p.Ser1629Valfs frameshift NM_001407631.1:c.4883delA NP_001394560.1:p.Ser1629Valfs frameshift NM_001407632.1:c.4883delA NP_001394561.1:p.Ser1629Valfs frameshift NM_001407633.1:c.4883delA NP_001394562.1:p.Ser1629Valfs frameshift NM_001407634.1:c.4883delA NP_001394563.1:p.Ser1629Valfs frameshift NM_001407635.1:c.4883delA NP_001394564.1:p.Ser1629Valfs frameshift NM_001407636.1:c.4883delA NP_001394565.1:p.Ser1629Valfs frameshift NM_001407637.1:c.4883delA NP_001394566.1:p.Ser1629Valfs frameshift NM_001407638.1:c.4883delA NP_001394567.1:p.Ser1629Valfs frameshift NM_001407639.1:c.4883delA NP_001394568.1:p.Ser1629Valfs frameshift NM_001407640.1:c.4883delA NP_001394569.1:p.Ser1629Valfs frameshift NM_001407641.1:c.4883delA NP_001394570.1:p.Ser1629Valfs frameshift NM_001407642.1:c.4883delA NP_001394571.1:p.Ser1629Valfs frameshift NM_001407644.1:c.4880delA NP_001394573.1:p.Ser1628Valfs frameshift NM_001407645.1:c.4880delA NP_001394574.1:p.Ser1628Valfs frameshift NM_001407646.1:c.4877delA NP_001394575.1:p.Ser1627Valfs frameshift NM_001407647.1:c.4874delA NP_001394576.1:p.Ser1626Valfs frameshift NM_001407648.1:c.4832delA NP_001394577.1:p.Ser1612Valfs frameshift NM_001407649.1:c.4829delA NP_001394578.1:p.Ser1611Valfs frameshift NM_001407652.1:c.4889delA NP_001394581.1:p.Ser1631Valfs frameshift NM_001407653.1:c.4811delA NP_001394582.1:p.Ser1605Valfs frameshift NM_001407654.1:c.4811delA NP_001394583.1:p.Ser1605Valfs frameshift NM_001407655.1:c.4811delA NP_001394584.1:p.Ser1605Valfs frameshift NM_001407656.1:c.4808delA NP_001394585.1:p.Ser1604Valfs frameshift NM_001407657.1:c.4808delA NP_001394586.1:p.Ser1604Valfs frameshift NM_001407658.1:c.4808delA NP_001394587.1:p.Ser1604Valfs frameshift NM_001407659.1:c.4805delA NP_001394588.1:p.Ser1603Valfs frameshift NM_001407660.1:c.4805delA NP_001394589.1:p.Ser1603Valfs frameshift NM_001407661.1:c.4805delA NP_001394590.1:p.Ser1603Valfs frameshift NM_001407662.1:c.4805delA NP_001394591.1:p.Ser1603Valfs frameshift NM_001407663.1:c.4805delA NP_001394592.1:p.Ser1603Valfs frameshift NM_001407664.1:c.4766delA NP_001394593.1:p.Ser1590Valfs frameshift NM_001407665.1:c.4766delA NP_001394594.1:p.Ser1590Valfs frameshift NM_001407666.1:c.4766delA NP_001394595.1:p.Ser1590Valfs frameshift NM_001407667.1:c.4766delA NP_001394596.1:p.Ser1590Valfs frameshift NM_001407668.1:c.4766delA NP_001394597.1:p.Ser1590Valfs frameshift NM_001407669.1:c.4766delA NP_001394598.1:p.Ser1590Valfs frameshift NM_001407670.1:c.4763delA NP_001394599.1:p.Ser1589Valfs frameshift NM_001407671.1:c.4763delA NP_001394600.1:p.Ser1589Valfs frameshift NM_001407672.1:c.4763delA NP_001394601.1:p.Ser1589Valfs frameshift NM_001407673.1:c.4763delA NP_001394602.1:p.Ser1589Valfs frameshift NM_001407674.1:c.4763delA NP_001394603.1:p.Ser1589Valfs frameshift NM_001407675.1:c.4763delA NP_001394604.1:p.Ser1589Valfs frameshift NM_001407676.1:c.4763delA NP_001394605.1:p.Ser1589Valfs frameshift NM_001407677.1:c.4763delA NP_001394606.1:p.Ser1589Valfs frameshift NM_001407678.1:c.4763delA NP_001394607.1:p.Ser1589Valfs frameshift NM_001407679.1:c.4763delA NP_001394608.1:p.Ser1589Valfs frameshift NM_001407680.1:c.4763delA NP_001394609.1:p.Ser1589Valfs frameshift NM_001407681.1:c.4760delA NP_001394610.1:p.Ser1588Valfs frameshift NM_001407682.1:c.4760delA NP_001394611.1:p.Ser1588Valfs frameshift NM_001407683.1:c.4760delA NP_001394612.1:p.Ser1588Valfs frameshift NM_001407684.1:c.4889delA NP_001394613.1:p.Ser1631Valfs frameshift NM_001407685.1:c.4760delA NP_001394614.1:p.Ser1588Valfs frameshift NM_001407686.1:c.4760delA NP_001394615.1:p.Ser1588Valfs frameshift NM_001407687.1:c.4760delA NP_001394616.1:p.Ser1588Valfs frameshift NM_001407688.1:c.4760delA NP_001394617.1:p.Ser1588Valfs frameshift NM_001407689.1:c.4760delA NP_001394618.1:p.Ser1588Valfs frameshift NM_001407690.1:c.4757delA NP_001394619.1:p.Ser1587Valfs frameshift NM_001407691.1:c.4757delA NP_001394620.1:p.Ser1587Valfs frameshift NM_001407692.1:c.4748delA NP_001394621.1:p.Ser1584Valfs frameshift NM_001407694.1:c.4748delA NP_001394623.1:p.Ser1584Valfs frameshift NM_001407695.1:c.4748delA NP_001394624.1:p.Ser1584Valfs frameshift NM_001407696.1:c.4748delA NP_001394625.1:p.Ser1584Valfs frameshift NM_001407697.1:c.4748delA NP_001394626.1:p.Ser1584Valfs frameshift NM_001407698.1:c.4748delA NP_001394627.1:p.Ser1584Valfs frameshift NM_001407724.1:c.4748delA NP_001394653.1:p.Ser1584Valfs frameshift NM_001407725.1:c.4748delA NP_001394654.1:p.Ser1584Valfs frameshift NM_001407726.1:c.4748delA NP_001394655.1:p.Ser1584Valfs frameshift NM_001407727.1:c.4748delA NP_001394656.1:p.Ser1584Valfs frameshift NM_001407728.1:c.4748delA NP_001394657.1:p.Ser1584Valfs frameshift NM_001407729.1:c.4748delA NP_001394658.1:p.Ser1584Valfs frameshift NM_001407730.1:c.4748delA NP_001394659.1:p.Ser1584Valfs frameshift NM_001407731.1:c.4748delA NP_001394660.1:p.Ser1584Valfs frameshift NM_001407732.1:c.4745delA NP_001394661.1:p.Ser1583Valfs frameshift NM_001407733.1:c.4745delA NP_001394662.1:p.Ser1583Valfs frameshift NM_001407734.1:c.4745delA NP_001394663.1:p.Ser1583Valfs frameshift NM_001407735.1:c.4745delA NP_001394664.1:p.Ser1583Valfs frameshift NM_001407736.1:c.4745delA NP_001394665.1:p.Ser1583Valfs frameshift NM_001407737.1:c.4745delA NP_001394666.1:p.Ser1583Valfs frameshift NM_001407738.1:c.4745delA NP_001394667.1:p.Ser1583Valfs frameshift NM_001407739.1:c.4745delA NP_001394668.1:p.Ser1583Valfs frameshift NM_001407740.1:c.4745delA NP_001394669.1:p.Ser1583Valfs frameshift NM_001407741.1:c.4745delA NP_001394670.1:p.Ser1583Valfs frameshift NM_001407742.1:c.4745delA NP_001394671.1:p.Ser1583Valfs frameshift NM_001407743.1:c.4745delA NP_001394672.1:p.Ser1583Valfs frameshift NM_001407744.1:c.4745delA NP_001394673.1:p.Ser1583Valfs frameshift NM_001407745.1:c.4745delA NP_001394674.1:p.Ser1583Valfs frameshift NM_001407746.1:c.4745delA NP_001394675.1:p.Ser1583Valfs frameshift NM_001407747.1:c.4745delA NP_001394676.1:p.Ser1583Valfs frameshift NM_001407748.1:c.4745delA NP_001394677.1:p.Ser1583Valfs frameshift NM_001407749.1:c.4745delA NP_001394678.1:p.Ser1583Valfs frameshift NM_001407750.1:c.4745delA NP_001394679.1:p.Ser1583Valfs frameshift NM_001407751.1:c.4745delA NP_001394680.1:p.Ser1583Valfs frameshift NM_001407752.1:c.4745delA NP_001394681.1:p.Ser1583Valfs frameshift NM_001407838.1:c.4742delA NP_001394767.1:p.Ser1582Valfs frameshift NM_001407839.1:c.4742delA NP_001394768.1:p.Ser1582Valfs frameshift NM_001407841.1:c.4742delA NP_001394770.1:p.Ser1582Valfs frameshift NM_001407842.1:c.4742delA NP_001394771.1:p.Ser1582Valfs frameshift NM_001407843.1:c.4742delA NP_001394772.1:p.Ser1582Valfs frameshift NM_001407844.1:c.4742delA NP_001394773.1:p.Ser1582Valfs frameshift NM_001407845.1:c.4742delA NP_001394774.1:p.Ser1582Valfs frameshift NM_001407846.1:c.4742delA NP_001394775.1:p.Ser1582Valfs frameshift NM_001407847.1:c.4742delA NP_001394776.1:p.Ser1582Valfs frameshift NM_001407848.1:c.4742delA NP_001394777.1:p.Ser1582Valfs frameshift NM_001407849.1:c.4742delA NP_001394778.1:p.Ser1582Valfs frameshift NM_001407850.1:c.4742delA NP_001394779.1:p.Ser1582Valfs frameshift NM_001407851.1:c.4742delA NP_001394780.1:p.Ser1582Valfs frameshift NM_001407852.1:c.4742delA NP_001394781.1:p.Ser1582Valfs frameshift NM_001407853.1:c.4742delA NP_001394782.1:p.Ser1582Valfs frameshift NM_001407854.1:c.4889delA NP_001394783.1:p.Ser1631Valfs frameshift NM_001407858.1:c.4886delA NP_001394787.1:p.Ser1630Valfs frameshift NM_001407859.1:c.4886delA NP_001394788.1:p.Ser1630Valfs frameshift NM_001407860.1:c.4886delA NP_001394789.1:p.Ser1630Valfs frameshift NM_001407861.1:c.4883delA NP_001394790.1:p.Ser1629Valfs frameshift NM_001407862.1:c.4688delA NP_001394791.1:p.Ser1564Valfs frameshift NM_001407863.1:c.4763delA NP_001394792.1:p.Ser1589Valfs frameshift NM_001407874.1:c.4682delA NP_001394803.1:p.Ser1562Valfs frameshift NM_001407875.1:c.4682delA NP_001394804.1:p.Ser1562Valfs frameshift NM_001407879.1:c.4679delA NP_001394808.1:p.Ser1561Valfs frameshift NM_001407881.1:c.4679delA NP_001394810.1:p.Ser1561Valfs frameshift NM_001407882.1:c.4679delA NP_001394811.1:p.Ser1561Valfs frameshift NM_001407884.1:c.4679delA NP_001394813.1:p.Ser1561Valfs frameshift NM_001407885.1:c.4679delA NP_001394814.1:p.Ser1561Valfs frameshift NM_001407886.1:c.4679delA NP_001394815.1:p.Ser1561Valfs frameshift NM_001407887.1:c.4679delA NP_001394816.1:p.Ser1561Valfs frameshift NM_001407889.1:c.4679delA NP_001394818.1:p.Ser1561Valfs frameshift NM_001407894.1:c.4676delA NP_001394823.1:p.Ser1560Valfs frameshift NM_001407895.1:c.4676delA NP_001394824.1:p.Ser1560Valfs frameshift NM_001407896.1:c.4676delA NP_001394825.1:p.Ser1560Valfs frameshift NM_001407897.1:c.4676delA NP_001394826.1:p.Ser1560Valfs frameshift NM_001407898.1:c.4676delA NP_001394827.1:p.Ser1560Valfs frameshift NM_001407899.1:c.4676delA NP_001394828.1:p.Ser1560Valfs frameshift NM_001407900.1:c.4676delA NP_001394829.1:p.Ser1560Valfs frameshift NM_001407902.1:c.4676delA NP_001394831.1:p.Ser1560Valfs frameshift NM_001407904.1:c.4676delA NP_001394833.1:p.Ser1560Valfs frameshift NM_001407906.1:c.4676delA NP_001394835.1:p.Ser1560Valfs frameshift NM_001407907.1:c.4676delA NP_001394836.1:p.Ser1560Valfs frameshift NM_001407908.1:c.4676delA NP_001394837.1:p.Ser1560Valfs frameshift NM_001407909.1:c.4676delA NP_001394838.1:p.Ser1560Valfs frameshift NM_001407910.1:c.4676delA NP_001394839.1:p.Ser1560Valfs frameshift NM_001407915.1:c.4673delA NP_001394844.1:p.Ser1559Valfs frameshift NM_001407916.1:c.4673delA NP_001394845.1:p.Ser1559Valfs frameshift NM_001407917.1:c.4673delA NP_001394846.1:p.Ser1559Valfs frameshift NM_001407918.1:c.4673delA NP_001394847.1:p.Ser1559Valfs frameshift NM_001407919.1:c.4766delA NP_001394848.1:p.Ser1590Valfs frameshift NM_001407920.1:c.4625delA NP_001394849.1:p.Ser1543Valfs frameshift NM_001407921.1:c.4625delA NP_001394850.1:p.Ser1543Valfs frameshift NM_001407922.1:c.4625delA NP_001394851.1:p.Ser1543Valfs frameshift NM_001407923.1:c.4625delA NP_001394852.1:p.Ser1543Valfs frameshift NM_001407924.1:c.4625delA NP_001394853.1:p.Ser1543Valfs frameshift NM_001407925.1:c.4625delA NP_001394854.1:p.Ser1543Valfs frameshift NM_001407926.1:c.4625delA NP_001394855.1:p.Ser1543Valfs frameshift NM_001407927.1:c.4622delA NP_001394856.1:p.Ser1542Valfs frameshift NM_001407928.1:c.4622delA NP_001394857.1:p.Ser1542Valfs frameshift NM_001407929.1:c.4622delA NP_001394858.1:p.Ser1542Valfs frameshift NM_001407930.1:c.4622delA NP_001394859.1:p.Ser1542Valfs frameshift NM_001407931.1:c.4622delA NP_001394860.1:p.Ser1542Valfs frameshift NM_001407932.1:c.4622delA NP_001394861.1:p.Ser1542Valfs frameshift NM_001407933.1:c.4622delA NP_001394862.1:p.Ser1542Valfs frameshift NM_001407934.1:c.4619delA NP_001394863.1:p.Ser1541Valfs frameshift NM_001407935.1:c.4619delA NP_001394864.1:p.Ser1541Valfs frameshift NM_001407936.1:c.4619delA NP_001394865.1:p.Ser1541Valfs frameshift NM_001407937.1:c.4766delA NP_001394866.1:p.Ser1590Valfs frameshift NM_001407938.1:c.4766delA NP_001394867.1:p.Ser1590Valfs frameshift NM_001407939.1:c.4763delA NP_001394868.1:p.Ser1589Valfs frameshift NM_001407940.1:c.4763delA NP_001394869.1:p.Ser1589Valfs frameshift NM_001407941.1:c.4760delA NP_001394870.1:p.Ser1588Valfs frameshift NM_001407942.1:c.4748delA NP_001394871.1:p.Ser1584Valfs frameshift NM_001407943.1:c.4745delA NP_001394872.1:p.Ser1583Valfs frameshift NM_001407944.1:c.4745delA NP_001394873.1:p.Ser1583Valfs frameshift NM_001407945.1:c.4745delA NP_001394874.1:p.Ser1583Valfs frameshift NM_001407946.1:c.4556delA NP_001394875.1:p.Ser1520Valfs frameshift NM_001407947.1:c.4556delA NP_001394876.1:p.Ser1520Valfs frameshift NM_001407948.1:c.4556delA NP_001394877.1:p.Ser1520Valfs frameshift NM_001407949.1:c.4556delA NP_001394878.1:p.Ser1520Valfs frameshift NM_001407950.1:c.4553delA NP_001394879.1:p.Ser1519Valfs frameshift NM_001407951.1:c.4553delA NP_001394880.1:p.Ser1519Valfs frameshift NM_001407952.1:c.4553delA NP_001394881.1:p.Ser1519Valfs frameshift NM_001407953.1:c.4553delA NP_001394882.1:p.Ser1519Valfs frameshift NM_001407954.1:c.4553delA NP_001394883.1:p.Ser1519Valfs frameshift NM_001407955.1:c.4553delA NP_001394884.1:p.Ser1519Valfs frameshift NM_001407956.1:c.4550delA NP_001394885.1:p.Ser1518Valfs frameshift NM_001407957.1:c.4550delA NP_001394886.1:p.Ser1518Valfs frameshift NM_001407958.1:c.4550delA NP_001394887.1:p.Ser1518Valfs frameshift NM_001407959.1:c.4508delA NP_001394888.1:p.Ser1504Valfs frameshift NM_001407960.1:c.4505delA NP_001394889.1:p.Ser1503Valfs frameshift NM_001407962.1:c.4505delA NP_001394891.1:p.Ser1503Valfs frameshift NM_001407963.1:c.4502delA NP_001394892.1:p.Ser1502Valfs frameshift NM_001407964.1:c.4427delA NP_001394893.1:p.Ser1477Valfs frameshift NM_001407965.1:c.4382delA NP_001394894.1:p.Ser1462Valfs frameshift NM_001407966.1:c.4001delA NP_001394895.1:p.Ser1335Valfs frameshift NM_001407967.1:c.3998delA NP_001394896.1:p.Ser1334Valfs frameshift NM_001407968.1:c.2285delA NP_001394897.1:p.Ser763Valfs frameshift NM_001407969.1:c.2282delA NP_001394898.1:p.Ser762Valfs frameshift NM_001407970.1:c.1646delA NP_001394899.1:p.Ser550Valfs frameshift NM_001407971.1:c.1646delA NP_001394900.1:p.Ser550Valfs frameshift NM_001407972.1:c.1643delA NP_001394901.1:p.Ser549Valfs frameshift NM_001407973.1:c.1580delA NP_001394902.1:p.Ser528Valfs frameshift NM_001407974.1:c.1580delA NP_001394903.1:p.Ser528Valfs frameshift NM_001407975.1:c.1580delA NP_001394904.1:p.Ser528Valfs frameshift NM_001407976.1:c.1580delA NP_001394905.1:p.Ser528Valfs frameshift NM_001407977.1:c.1580delA NP_001394906.1:p.Ser528Valfs frameshift NM_001407978.1:c.1580delA NP_001394907.1:p.Ser528Valfs frameshift NM_001407979.1:c.1577delA NP_001394908.1:p.Ser527Valfs frameshift NM_001407980.1:c.1577delA NP_001394909.1:p.Ser527Valfs frameshift NM_001407981.1:c.1577delA NP_001394910.1:p.Ser527Valfs frameshift NM_001407982.1:c.1577delA NP_001394911.1:p.Ser527Valfs frameshift NM_001407983.1:c.1577delA NP_001394912.1:p.Ser527Valfs frameshift NM_001407984.1:c.1577delA NP_001394913.1:p.Ser527Valfs frameshift NM_001407985.1:c.1577delA NP_001394914.1:p.Ser527Valfs frameshift NM_001407986.1:c.1577delA NP_001394915.1:p.Ser527Valfs frameshift NM_001407990.1:c.1577delA NP_001394919.1:p.Ser527Valfs frameshift NM_001407991.1:c.1577delA NP_001394920.1:p.Ser527Valfs frameshift NM_001407992.1:c.1577delA NP_001394921.1:p.Ser527Valfs frameshift NM_001407993.1:c.1577delA NP_001394922.1:p.Ser527Valfs frameshift NM_001408392.1:c.1574delA NP_001395321.1:p.Ser526Valfs frameshift NM_001408396.1:c.1574delA NP_001395325.1:p.Ser526Valfs frameshift NM_001408397.1:c.1574delA NP_001395326.1:p.Ser526Valfs frameshift NM_001408398.1:c.1574delA NP_001395327.1:p.Ser526Valfs frameshift NM_001408399.1:c.1574delA NP_001395328.1:p.Ser526Valfs frameshift NM_001408400.1:c.1574delA NP_001395329.1:p.Ser526Valfs frameshift NM_001408401.1:c.1574delA NP_001395330.1:p.Ser526Valfs frameshift NM_001408402.1:c.1574delA NP_001395331.1:p.Ser526Valfs frameshift NM_001408403.1:c.1574delA NP_001395332.1:p.Ser526Valfs frameshift NM_001408404.1:c.1574delA NP_001395333.1:p.Ser526Valfs frameshift NM_001408406.1:c.1571delA NP_001395335.1:p.Ser525Valfs frameshift NM_001408407.1:c.1571delA NP_001395336.1:p.Ser525Valfs frameshift NM_001408408.1:c.1571delA NP_001395337.1:p.Ser525Valfs frameshift NM_001408409.1:c.1568delA NP_001395338.1:p.Ser524Valfs frameshift NM_001408410.1:c.1505delA NP_001395339.1:p.Ser503Valfs frameshift NM_001408411.1:c.1502delA NP_001395340.1:p.Ser502Valfs frameshift NM_001408412.1:c.1499delA NP_001395341.1:p.Ser501Valfs frameshift NM_001408413.1:c.1499delA NP_001395342.1:p.Ser501Valfs frameshift NM_001408414.1:c.1499delA NP_001395343.1:p.Ser501Valfs frameshift NM_001408415.1:c.1499delA NP_001395344.1:p.Ser501Valfs frameshift NM_001408416.1:c.1499delA NP_001395345.1:p.Ser501Valfs frameshift NM_001408418.1:c.1463delA NP_001395347.1:p.Ser489Valfs frameshift NM_001408419.1:c.1463delA NP_001395348.1:p.Ser489Valfs frameshift NM_001408420.1:c.1463delA NP_001395349.1:p.Ser489Valfs frameshift NM_001408421.1:c.1460delA NP_001395350.1:p.Ser488Valfs frameshift NM_001408422.1:c.1460delA NP_001395351.1:p.Ser488Valfs frameshift NM_001408423.1:c.1460delA NP_001395352.1:p.Ser488Valfs frameshift NM_001408424.1:c.1460delA NP_001395353.1:p.Ser488Valfs frameshift NM_001408425.1:c.1457delA NP_001395354.1:p.Ser487Valfs frameshift NM_001408426.1:c.1457delA NP_001395355.1:p.Ser487Valfs frameshift NM_001408427.1:c.1457delA NP_001395356.1:p.Ser487Valfs frameshift NM_001408428.1:c.1457delA NP_001395357.1:p.Ser487Valfs frameshift NM_001408429.1:c.1457delA NP_001395358.1:p.Ser487Valfs frameshift NM_001408430.1:c.1457delA NP_001395359.1:p.Ser487Valfs frameshift NM_001408431.1:c.1457delA NP_001395360.1:p.Ser487Valfs frameshift NM_001408432.1:c.1454delA NP_001395361.1:p.Ser486Valfs frameshift NM_001408433.1:c.1454delA NP_001395362.1:p.Ser486Valfs frameshift NM_001408434.1:c.1454delA NP_001395363.1:p.Ser486Valfs frameshift NM_001408435.1:c.1454delA NP_001395364.1:p.Ser486Valfs frameshift NM_001408436.1:c.1454delA NP_001395365.1:p.Ser486Valfs frameshift NM_001408437.1:c.1454delA NP_001395366.1:p.Ser486Valfs frameshift NM_001408438.1:c.1454delA NP_001395367.1:p.Ser486Valfs frameshift NM_001408439.1:c.1454delA NP_001395368.1:p.Ser486Valfs frameshift NM_001408440.1:c.1454delA NP_001395369.1:p.Ser486Valfs frameshift NM_001408441.1:c.1454delA NP_001395370.1:p.Ser486Valfs frameshift NM_001408442.1:c.1454delA NP_001395371.1:p.Ser486Valfs frameshift NM_001408443.1:c.1454delA NP_001395372.1:p.Ser486Valfs frameshift NM_001408444.1:c.1454delA NP_001395373.1:p.Ser486Valfs frameshift NM_001408445.1:c.1451delA NP_001395374.1:p.Ser485Valfs frameshift NM_001408446.1:c.1451delA NP_001395375.1:p.Ser485Valfs frameshift NM_001408447.1:c.1451delA NP_001395376.1:p.Ser485Valfs frameshift NM_001408448.1:c.1451delA NP_001395377.1:p.Ser485Valfs frameshift NM_001408450.1:c.1451delA NP_001395379.1:p.Ser485Valfs frameshift NM_001408451.1:c.1445delA NP_001395380.1:p.Ser483Valfs frameshift NM_001408452.1:c.1439delA NP_001395381.1:p.Ser481Valfs frameshift NM_001408453.1:c.1439delA NP_001395382.1:p.Ser481Valfs frameshift NM_001408454.1:c.1439delA NP_001395383.1:p.Ser481Valfs frameshift NM_001408455.1:c.1439delA NP_001395384.1:p.Ser481Valfs frameshift NM_001408456.1:c.1439delA NP_001395385.1:p.Ser481Valfs frameshift NM_001408457.1:c.1439delA NP_001395386.1:p.Ser481Valfs frameshift NM_001408458.1:c.1436delA NP_001395387.1:p.Ser480Valfs frameshift NM_001408459.1:c.1436delA NP_001395388.1:p.Ser480Valfs frameshift NM_001408460.1:c.1436delA NP_001395389.1:p.Ser480Valfs frameshift NM_001408461.1:c.1436delA NP_001395390.1:p.Ser480Valfs frameshift NM_001408462.1:c.1436delA NP_001395391.1:p.Ser480Valfs frameshift NM_001408463.1:c.1436delA NP_001395392.1:p.Ser480Valfs frameshift NM_001408464.1:c.1436delA NP_001395393.1:p.Ser480Valfs frameshift NM_001408465.1:c.1436delA NP_001395394.1:p.Ser480Valfs frameshift NM_001408466.1:c.1436delA NP_001395395.1:p.Ser480Valfs frameshift NM_001408467.1:c.1436delA NP_001395396.1:p.Ser480Valfs frameshift NM_001408468.1:c.1433delA NP_001395397.1:p.Ser479Valfs frameshift NM_001408469.1:c.1433delA NP_001395398.1:p.Ser479Valfs frameshift NM_001408470.1:c.1433delA NP_001395399.1:p.Ser479Valfs frameshift NM_001408472.1:c.1577delA NP_001395401.1:p.Ser527Valfs frameshift NM_001408473.1:c.1574delA NP_001395402.1:p.Ser526Valfs frameshift NM_001408474.1:c.1379delA NP_001395403.1:p.Ser461Valfs frameshift NM_001408475.1:c.1376delA NP_001395404.1:p.Ser460Valfs frameshift NM_001408476.1:c.1376delA NP_001395405.1:p.Ser460Valfs frameshift NM_001408478.1:c.1370delA NP_001395407.1:p.Ser458Valfs frameshift NM_001408479.1:c.1370delA NP_001395408.1:p.Ser458Valfs frameshift NM_001408480.1:c.1370delA NP_001395409.1:p.Ser458Valfs frameshift NM_001408481.1:c.1367delA NP_001395410.1:p.Ser457Valfs frameshift NM_001408482.1:c.1367delA NP_001395411.1:p.Ser457Valfs frameshift NM_001408483.1:c.1367delA NP_001395412.1:p.Ser457Valfs frameshift NM_001408484.1:c.1367delA NP_001395413.1:p.Ser457Valfs frameshift NM_001408485.1:c.1367delA NP_001395414.1:p.Ser457Valfs frameshift NM_001408489.1:c.1367delA NP_001395418.1:p.Ser457Valfs frameshift NM_001408490.1:c.1367delA NP_001395419.1:p.Ser457Valfs frameshift NM_001408491.1:c.1367delA NP_001395420.1:p.Ser457Valfs frameshift NM_001408492.1:c.1364delA NP_001395421.1:p.Ser456Valfs frameshift NM_001408493.1:c.1364delA NP_001395422.1:p.Ser456Valfs frameshift NM_001408494.1:c.1340delA NP_001395423.1:p.Ser448Valfs frameshift NM_001408495.1:c.1334delA NP_001395424.1:p.Ser446Valfs frameshift NM_001408496.1:c.1316delA NP_001395425.1:p.Ser440Valfs frameshift NM_001408497.1:c.1316delA NP_001395426.1:p.Ser440Valfs frameshift NM_001408498.1:c.1316delA NP_001395427.1:p.Ser440Valfs frameshift NM_001408499.1:c.1316delA NP_001395428.1:p.Ser440Valfs frameshift NM_001408500.1:c.1316delA NP_001395429.1:p.Ser440Valfs frameshift NM_001408501.1:c.1316delA NP_001395430.1:p.Ser440Valfs frameshift NM_001408502.1:c.1313delA NP_001395431.1:p.Ser439Valfs frameshift NM_001408503.1:c.1313delA NP_001395432.1:p.Ser439Valfs frameshift NM_001408504.1:c.1313delA NP_001395433.1:p.Ser439Valfs frameshift NM_001408505.1:c.1310delA NP_001395434.1:p.Ser438Valfs frameshift NM_001408506.1:c.1253delA NP_001395435.1:p.Ser419Valfs frameshift NM_001408507.1:c.1250delA NP_001395436.1:p.Ser418Valfs frameshift NM_001408508.1:c.1241delA NP_001395437.1:p.Ser415Valfs frameshift NM_001408509.1:c.1238delA NP_001395438.1:p.Ser414Valfs frameshift NM_001408510.1:c.1199delA NP_001395439.1:p.Ser401Valfs frameshift NM_001408511.1:c.1196delA NP_001395440.1:p.Ser400Valfs frameshift NM_001408512.1:c.1076delA NP_001395441.1:p.Ser360Valfs frameshift NM_001408513.1:c.1049delA NP_001395442.1:p.Ser351Valfs frameshift NM_007294.3:c.4889delA NP_009225.1:p.Ser1631Valfs frameshift NM_007297.4:c.4750del NP_009228.2:p.Ser1584fs frameshift NM_007298.4:c.1577delA NP_009229.2:p.Ser527Valfs frameshift NM_007299.4:c.1579del NP_009230.2:p.Ser527fs frameshift NM_007300.4:c.4954del NP_009231.2:p.Ser1652fs frameshift NM_007304.2:c.1577delA NP_009235.2:p.Ser527Valfs frameshift NR_027676.2:n.5068del non-coding transcript variant NC_000017.11:g.43071025del NC_000017.10:g.41223042del NG_005905.2:g.146961del LRG_292:g.146961del LRG_292t1:c.4891del LRG_292p1:p.Ser1631fs - Protein change
- S1652fs, S1631fs, S527fs, S1584fs
- Other names
- 5010delA
- Canonical SPDI
- NC_000017.11:43071022:TTT:TT
-
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.
-
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 |
12795 | 14565 |
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. |
---|---|---|---|---|
Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257778.13 |
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
(Oct 18, 2016)
|
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)
Accession: SCV000323806.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326060.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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 rs80357656 ...
HelpRecord last updated Apr 20, 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.