ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.190_193del (p.Cys64fs)
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.190_193del (p.Cys64fs)
Variation ID: 54395 Accession: VCV000054395.3
- Type and length
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Deletion, 4 bp
- Location
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Cytogenetic: 17q21.31 17: 43106475-43106478 (GRCh38) [ NCBI UCSC ] 17: 41258492-41258495 (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 Jan 25, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.190_193del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys64fs frameshift NM_001407581.1:c.188_191delTATG NP_001394510.1:p.Cys64Argfs frameshift NM_001407582.1:c.188_191delTATG NP_001394511.1:p.Cys64Argfs frameshift NM_001407583.1:c.188_191delTATG NP_001394512.1:p.Cys64Argfs frameshift NM_001407585.1:c.188_191delTATG NP_001394514.1:p.Cys64Argfs frameshift NM_001407587.1:c.188_191delTATG NP_001394516.1:p.Cys64Argfs frameshift NM_001407590.1:c.188_191delTATG NP_001394519.1:p.Cys64Argfs frameshift NM_001407591.1:c.188_191delTATG NP_001394520.1:p.Cys64Argfs frameshift NM_001407593.1:c.188_191delTATG NP_001394522.1:p.Cys64Argfs frameshift NM_001407594.1:c.188_191delTATG NP_001394523.1:p.Cys64Argfs frameshift NM_001407596.1:c.188_191delTATG NP_001394525.1:p.Cys64Argfs frameshift NM_001407597.1:c.188_191delTATG NP_001394526.1:p.Cys64Argfs frameshift NM_001407598.1:c.188_191delTATG NP_001394527.1:p.Cys64Argfs frameshift NM_001407602.1:c.188_191delTATG NP_001394531.1:p.Cys64Argfs frameshift NM_001407603.1:c.188_191delTATG NP_001394532.1:p.Cys64Argfs frameshift NM_001407605.1:c.188_191delTATG NP_001394534.1:p.Cys64Argfs frameshift NM_001407610.1:c.188_191delTATG NP_001394539.1:p.Cys64Argfs frameshift NM_001407611.1:c.188_191delTATG NP_001394540.1:p.Cys64Argfs frameshift NM_001407612.1:c.188_191delTATG NP_001394541.1:p.Cys64Argfs frameshift NM_001407613.1:c.188_191delTATG NP_001394542.1:p.Cys64Argfs frameshift NM_001407614.1:c.188_191delTATG NP_001394543.1:p.Cys64Argfs frameshift NM_001407615.1:c.188_191delTATG NP_001394544.1:p.Cys64Argfs frameshift NM_001407616.1:c.188_191delTATG NP_001394545.1:p.Cys64Argfs frameshift NM_001407617.1:c.188_191delTATG NP_001394546.1:p.Cys64Argfs frameshift NM_001407618.1:c.188_191delTATG NP_001394547.1:p.Cys64Argfs frameshift NM_001407619.1:c.188_191delTATG NP_001394548.1:p.Cys64Argfs frameshift NM_001407620.1:c.188_191delTATG NP_001394549.1:p.Cys64Argfs frameshift NM_001407621.1:c.188_191delTATG NP_001394550.1:p.Cys64Argfs frameshift NM_001407622.1:c.188_191delTATG NP_001394551.1:p.Cys64Argfs frameshift NM_001407623.1:c.188_191delTATG NP_001394552.1:p.Cys64Argfs frameshift NM_001407624.1:c.188_191delTATG NP_001394553.1:p.Cys64Argfs frameshift NM_001407625.1:c.188_191delTATG NP_001394554.1:p.Cys64Argfs frameshift NM_001407626.1:c.188_191delTATG NP_001394555.1:p.Cys64Argfs frameshift NM_001407627.1:c.188_191delTATG NP_001394556.1:p.Cys64Argfs frameshift NM_001407628.1:c.188_191delTATG NP_001394557.1:p.Cys64Argfs frameshift NM_001407629.1:c.188_191delTATG NP_001394558.1:p.Cys64Argfs frameshift NM_001407630.1:c.188_191delTATG NP_001394559.1:p.Cys64Argfs frameshift NM_001407631.1:c.188_191delTATG NP_001394560.1:p.Cys64Argfs frameshift NM_001407632.1:c.188_191delTATG NP_001394561.1:p.Cys64Argfs frameshift NM_001407633.1:c.188_191delTATG NP_001394562.1:p.Cys64Argfs frameshift NM_001407634.1:c.188_191delTATG NP_001394563.1:p.Cys64Argfs frameshift NM_001407635.1:c.188_191delTATG NP_001394564.1:p.Cys64Argfs frameshift NM_001407636.1:c.188_191delTATG NP_001394565.1:p.Cys64Argfs frameshift NM_001407637.1:c.188_191delTATG NP_001394566.1:p.Cys64Argfs frameshift NM_001407638.1:c.188_191delTATG NP_001394567.1:p.Cys64Argfs frameshift NM_001407639.1:c.188_191delTATG NP_001394568.1:p.Cys64Argfs frameshift NM_001407640.1:c.188_191delTATG NP_001394569.1:p.Cys64Argfs frameshift NM_001407641.1:c.188_191delTATG NP_001394570.1:p.Cys64Argfs frameshift NM_001407642.1:c.188_191delTATG NP_001394571.1:p.Cys64Argfs frameshift NM_001407644.1:c.188_191delTATG NP_001394573.1:p.Cys64Argfs frameshift NM_001407645.1:c.188_191delTATG NP_001394574.1:p.Cys64Argfs frameshift NM_001407646.1:c.188_191delTATG NP_001394575.1:p.Cys64Argfs frameshift NM_001407647.1:c.188_191delTATG NP_001394576.1:p.Cys64Argfs frameshift NM_001407648.1:c.188_191delTATG NP_001394577.1:p.Cys64Argfs frameshift NM_001407649.1:c.188_191delTATG NP_001394578.1:p.Cys64Argfs frameshift NM_001407652.1:c.188_191delTATG NP_001394581.1:p.Cys64Argfs frameshift NM_001407664.1:c.188_191delTATG NP_001394593.1:p.Cys64Argfs frameshift NM_001407665.1:c.188_191delTATG NP_001394594.1:p.Cys64Argfs frameshift NM_001407666.1:c.188_191delTATG NP_001394595.1:p.Cys64Argfs frameshift NM_001407667.1:c.188_191delTATG NP_001394596.1:p.Cys64Argfs frameshift NM_001407668.1:c.188_191delTATG NP_001394597.1:p.Cys64Argfs frameshift NM_001407669.1:c.188_191delTATG NP_001394598.1:p.Cys64Argfs frameshift NM_001407670.1:c.188_191delTATG NP_001394599.1:p.Cys64Argfs frameshift NM_001407671.1:c.188_191delTATG NP_001394600.1:p.Cys64Argfs frameshift NM_001407672.1:c.188_191delTATG NP_001394601.1:p.Cys64Argfs frameshift NM_001407673.1:c.188_191delTATG NP_001394602.1:p.Cys64Argfs frameshift NM_001407674.1:c.188_191delTATG NP_001394603.1:p.Cys64Argfs frameshift NM_001407675.1:c.188_191delTATG NP_001394604.1:p.Cys64Argfs frameshift NM_001407676.1:c.188_191delTATG NP_001394605.1:p.Cys64Argfs frameshift NM_001407677.1:c.188_191delTATG NP_001394606.1:p.Cys64Argfs frameshift NM_001407678.1:c.188_191delTATG NP_001394607.1:p.Cys64Argfs frameshift NM_001407679.1:c.188_191delTATG NP_001394608.1:p.Cys64Argfs frameshift NM_001407680.1:c.188_191delTATG NP_001394609.1:p.Cys64Argfs frameshift NM_001407681.1:c.188_191delTATG NP_001394610.1:p.Cys64Argfs frameshift NM_001407682.1:c.188_191delTATG NP_001394611.1:p.Cys64Argfs frameshift NM_001407683.1:c.188_191delTATG NP_001394612.1:p.Cys64Argfs frameshift NM_001407684.1:c.188_191delTATG NP_001394613.1:p.Cys64Argfs frameshift NM_001407685.1:c.188_191delTATG NP_001394614.1:p.Cys64Argfs frameshift NM_001407686.1:c.188_191delTATG NP_001394615.1:p.Cys64Argfs frameshift NM_001407687.1:c.188_191delTATG NP_001394616.1:p.Cys64Argfs frameshift NM_001407688.1:c.188_191delTATG NP_001394617.1:p.Cys64Argfs frameshift NM_001407689.1:c.188_191delTATG NP_001394618.1:p.Cys64Argfs frameshift NM_001407690.1:c.188_191delTATG NP_001394619.1:p.Cys64Argfs frameshift NM_001407691.1:c.188_191delTATG NP_001394620.1:p.Cys64Argfs frameshift NM_001407692.1:c.47_50delTATG NP_001394621.1:p.Cys17Argfs frameshift NM_001407694.1:c.47_50delTATG NP_001394623.1:p.Cys17Argfs frameshift NM_001407695.1:c.47_50delTATG NP_001394624.1:p.Cys17Argfs frameshift NM_001407696.1:c.47_50delTATG NP_001394625.1:p.Cys17Argfs frameshift NM_001407697.1:c.47_50delTATG NP_001394626.1:p.Cys17Argfs frameshift NM_001407698.1:c.47_50delTATG NP_001394627.1:p.Cys17Argfs frameshift NM_001407724.1:c.47_50delTATG NP_001394653.1:p.Cys17Argfs frameshift NM_001407725.1:c.47_50delTATG NP_001394654.1:p.Cys17Argfs frameshift NM_001407726.1:c.47_50delTATG NP_001394655.1:p.Cys17Argfs frameshift NM_001407727.1:c.47_50delTATG NP_001394656.1:p.Cys17Argfs frameshift NM_001407728.1:c.47_50delTATG NP_001394657.1:p.Cys17Argfs frameshift NM_001407729.1:c.47_50delTATG NP_001394658.1:p.Cys17Argfs frameshift NM_001407730.1:c.47_50delTATG NP_001394659.1:p.Cys17Argfs frameshift NM_001407731.1:c.47_50delTATG NP_001394660.1:p.Cys17Argfs frameshift NM_001407732.1:c.47_50delTATG NP_001394661.1:p.Cys17Argfs frameshift NM_001407733.1:c.47_50delTATG NP_001394662.1:p.Cys17Argfs frameshift NM_001407734.1:c.47_50delTATG NP_001394663.1:p.Cys17Argfs frameshift NM_001407735.1:c.47_50delTATG NP_001394664.1:p.Cys17Argfs frameshift NM_001407736.1:c.47_50delTATG NP_001394665.1:p.Cys17Argfs frameshift NM_001407737.1:c.47_50delTATG NP_001394666.1:p.Cys17Argfs frameshift NM_001407738.1:c.47_50delTATG NP_001394667.1:p.Cys17Argfs frameshift NM_001407739.1:c.47_50delTATG NP_001394668.1:p.Cys17Argfs frameshift NM_001407740.1:c.47_50delTATG NP_001394669.1:p.Cys17Argfs frameshift NM_001407741.1:c.47_50delTATG NP_001394670.1:p.Cys17Argfs frameshift NM_001407742.1:c.47_50delTATG NP_001394671.1:p.Cys17Argfs frameshift NM_001407743.1:c.47_50delTATG NP_001394672.1:p.Cys17Argfs frameshift NM_001407744.1:c.47_50delTATG NP_001394673.1:p.Cys17Argfs frameshift NM_001407745.1:c.47_50delTATG NP_001394674.1:p.Cys17Argfs frameshift NM_001407746.1:c.47_50delTATG NP_001394675.1:p.Cys17Argfs frameshift NM_001407747.1:c.47_50delTATG NP_001394676.1:p.Cys17Argfs frameshift NM_001407748.1:c.47_50delTATG NP_001394677.1:p.Cys17Argfs frameshift NM_001407749.1:c.47_50delTATG NP_001394678.1:p.Cys17Argfs frameshift NM_001407750.1:c.47_50delTATG NP_001394679.1:p.Cys17Argfs frameshift NM_001407751.1:c.47_50delTATG NP_001394680.1:p.Cys17Argfs frameshift NM_001407752.1:c.47_50delTATG NP_001394681.1:p.Cys17Argfs frameshift NM_001407838.1:c.47_50delTATG NP_001394767.1:p.Cys17Argfs frameshift NM_001407839.1:c.47_50delTATG NP_001394768.1:p.Cys17Argfs frameshift NM_001407841.1:c.47_50delTATG NP_001394770.1:p.Cys17Argfs frameshift NM_001407842.1:c.47_50delTATG NP_001394771.1:p.Cys17Argfs frameshift NM_001407843.1:c.47_50delTATG NP_001394772.1:p.Cys17Argfs frameshift NM_001407844.1:c.47_50delTATG NP_001394773.1:p.Cys17Argfs frameshift NM_001407845.1:c.47_50delTATG NP_001394774.1:p.Cys17Argfs frameshift NM_001407846.1:c.47_50delTATG NP_001394775.1:p.Cys17Argfs frameshift NM_001407847.1:c.47_50delTATG NP_001394776.1:p.Cys17Argfs frameshift NM_001407848.1:c.47_50delTATG NP_001394777.1:p.Cys17Argfs frameshift NM_001407849.1:c.47_50delTATG NP_001394778.1:p.Cys17Argfs frameshift NM_001407850.1:c.47_50delTATG NP_001394779.1:p.Cys17Argfs frameshift NM_001407851.1:c.47_50delTATG NP_001394780.1:p.Cys17Argfs frameshift NM_001407852.1:c.47_50delTATG NP_001394781.1:p.Cys17Argfs frameshift NM_001407854.1:c.188_191delTATG NP_001394783.1:p.Cys64Argfs frameshift NM_001407858.1:c.188_191delTATG NP_001394787.1:p.Cys64Argfs frameshift NM_001407859.1:c.188_191delTATG NP_001394788.1:p.Cys64Argfs frameshift NM_001407860.1:c.188_191delTATG NP_001394789.1:p.Cys64Argfs frameshift NM_001407861.1:c.188_191delTATG NP_001394790.1:p.Cys64Argfs frameshift NM_001407863.1:c.188_191delTATG NP_001394792.1:p.Cys64Argfs frameshift NM_001407919.1:c.188_191delTATG NP_001394848.1:p.Cys64Argfs frameshift NM_001407920.1:c.47_50delTATG NP_001394849.1:p.Cys17Argfs frameshift NM_001407921.1:c.47_50delTATG NP_001394850.1:p.Cys17Argfs frameshift NM_001407922.1:c.47_50delTATG NP_001394851.1:p.Cys17Argfs frameshift NM_001407923.1:c.47_50delTATG NP_001394852.1:p.Cys17Argfs frameshift NM_001407924.1:c.47_50delTATG NP_001394853.1:p.Cys17Argfs frameshift NM_001407925.1:c.47_50delTATG NP_001394854.1:p.Cys17Argfs frameshift NM_001407926.1:c.47_50delTATG NP_001394855.1:p.Cys17Argfs frameshift NM_001407927.1:c.47_50delTATG NP_001394856.1:p.Cys17Argfs frameshift NM_001407928.1:c.47_50delTATG NP_001394857.1:p.Cys17Argfs frameshift NM_001407929.1:c.47_50delTATG NP_001394858.1:p.Cys17Argfs frameshift NM_001407930.1:c.47_50delTATG NP_001394859.1:p.Cys17Argfs frameshift NM_001407931.1:c.47_50delTATG NP_001394860.1:p.Cys17Argfs frameshift NM_001407932.1:c.47_50delTATG NP_001394861.1:p.Cys17Argfs frameshift NM_001407933.1:c.47_50delTATG NP_001394862.1:p.Cys17Argfs frameshift NM_001407934.1:c.47_50delTATG NP_001394863.1:p.Cys17Argfs frameshift NM_001407935.1:c.47_50delTATG NP_001394864.1:p.Cys17Argfs frameshift NM_001407936.1:c.47_50delTATG NP_001394865.1:p.Cys17Argfs frameshift NM_001407937.1:c.188_191delTATG NP_001394866.1:p.Cys64Argfs frameshift NM_001407938.1:c.188_191delTATG NP_001394867.1:p.Cys64Argfs frameshift NM_001407939.1:c.188_191delTATG NP_001394868.1:p.Cys64Argfs frameshift NM_001407940.1:c.188_191delTATG NP_001394869.1:p.Cys64Argfs frameshift NM_001407941.1:c.188_191delTATG NP_001394870.1:p.Cys64Argfs frameshift NM_001407942.1:c.47_50delTATG NP_001394871.1:p.Cys17Argfs frameshift NM_001407943.1:c.47_50delTATG NP_001394872.1:p.Cys17Argfs frameshift NM_001407944.1:c.47_50delTATG NP_001394873.1:p.Cys17Argfs frameshift NM_001407945.1:c.47_50delTATG NP_001394874.1:p.Cys17Argfs frameshift NM_001407964.1:c.47_50delTATG NP_001394893.1:p.Cys17Argfs frameshift NM_001407968.1:c.188_191delTATG NP_001394897.1:p.Cys64Argfs frameshift NM_001407969.1:c.188_191delTATG NP_001394898.1:p.Cys64Argfs frameshift NM_001407970.1:c.188_191delTATG NP_001394899.1:p.Cys64Argfs frameshift NM_001407971.1:c.188_191delTATG NP_001394900.1:p.Cys64Argfs frameshift NM_001407972.1:c.188_191delTATG NP_001394901.1:p.Cys64Argfs frameshift NM_001407973.1:c.188_191delTATG NP_001394902.1:p.Cys64Argfs frameshift NM_001407974.1:c.188_191delTATG NP_001394903.1:p.Cys64Argfs frameshift NM_001407975.1:c.188_191delTATG NP_001394904.1:p.Cys64Argfs frameshift NM_001407976.1:c.188_191delTATG NP_001394905.1:p.Cys64Argfs frameshift NM_001407977.1:c.188_191delTATG NP_001394906.1:p.Cys64Argfs frameshift NM_001407978.1:c.188_191delTATG NP_001394907.1:p.Cys64Argfs frameshift NM_001407979.1:c.188_191delTATG NP_001394908.1:p.Cys64Argfs frameshift NM_001407980.1:c.188_191delTATG NP_001394909.1:p.Cys64Argfs frameshift NM_001407981.1:c.188_191delTATG NP_001394910.1:p.Cys64Argfs frameshift NM_001407982.1:c.188_191delTATG NP_001394911.1:p.Cys64Argfs frameshift NM_001407983.1:c.188_191delTATG NP_001394912.1:p.Cys64Argfs frameshift NM_001407984.1:c.188_191delTATG NP_001394913.1:p.Cys64Argfs frameshift NM_001407985.1:c.188_191delTATG NP_001394914.1:p.Cys64Argfs frameshift NM_001407986.1:c.188_191delTATG NP_001394915.1:p.Cys64Argfs frameshift NM_001407990.1:c.188_191delTATG NP_001394919.1:p.Cys64Argfs frameshift NM_001407991.1:c.188_191delTATG NP_001394920.1:p.Cys64Argfs frameshift NM_001407992.1:c.188_191delTATG NP_001394921.1:p.Cys64Argfs frameshift NM_001407993.1:c.188_191delTATG NP_001394922.1:p.Cys64Argfs frameshift NM_001408392.1:c.188_191delTATG NP_001395321.1:p.Cys64Argfs frameshift NM_001408396.1:c.188_191delTATG NP_001395325.1:p.Cys64Argfs frameshift NM_001408397.1:c.188_191delTATG NP_001395326.1:p.Cys64Argfs frameshift NM_001408398.1:c.188_191delTATG NP_001395327.1:p.Cys64Argfs frameshift NM_001408399.1:c.188_191delTATG NP_001395328.1:p.Cys64Argfs frameshift NM_001408400.1:c.188_191delTATG NP_001395329.1:p.Cys64Argfs frameshift NM_001408401.1:c.188_191delTATG NP_001395330.1:p.Cys64Argfs frameshift NM_001408402.1:c.188_191delTATG NP_001395331.1:p.Cys64Argfs frameshift NM_001408403.1:c.188_191delTATG NP_001395332.1:p.Cys64Argfs frameshift NM_001408404.1:c.188_191delTATG NP_001395333.1:p.Cys64Argfs frameshift NM_001408406.1:c.188_191delTATG NP_001395335.1:p.Cys64Argfs frameshift NM_001408407.1:c.188_191delTATG NP_001395336.1:p.Cys64Argfs frameshift NM_001408408.1:c.188_191delTATG NP_001395337.1:p.Cys64Argfs frameshift NM_001408410.1:c.47_50delTATG NP_001395339.1:p.Cys17Argfs frameshift NM_001408418.1:c.188_191delTATG NP_001395347.1:p.Cys64Argfs frameshift NM_001408419.1:c.188_191delTATG NP_001395348.1:p.Cys64Argfs frameshift NM_001408420.1:c.188_191delTATG NP_001395349.1:p.Cys64Argfs frameshift NM_001408421.1:c.188_191delTATG NP_001395350.1:p.Cys64Argfs frameshift NM_001408422.1:c.188_191delTATG NP_001395351.1:p.Cys64Argfs frameshift NM_001408423.1:c.188_191delTATG NP_001395352.1:p.Cys64Argfs frameshift NM_001408424.1:c.188_191delTATG NP_001395353.1:p.Cys64Argfs frameshift NM_001408425.1:c.188_191delTATG NP_001395354.1:p.Cys64Argfs frameshift NM_001408426.1:c.188_191delTATG NP_001395355.1:p.Cys64Argfs frameshift NM_001408427.1:c.188_191delTATG NP_001395356.1:p.Cys64Argfs frameshift NM_001408428.1:c.188_191delTATG NP_001395357.1:p.Cys64Argfs frameshift NM_001408429.1:c.188_191delTATG NP_001395358.1:p.Cys64Argfs frameshift NM_001408430.1:c.188_191delTATG NP_001395359.1:p.Cys64Argfs frameshift NM_001408431.1:c.188_191delTATG NP_001395360.1:p.Cys64Argfs frameshift NM_001408432.1:c.188_191delTATG NP_001395361.1:p.Cys64Argfs frameshift NM_001408433.1:c.188_191delTATG NP_001395362.1:p.Cys64Argfs frameshift NM_001408434.1:c.188_191delTATG NP_001395363.1:p.Cys64Argfs frameshift NM_001408435.1:c.188_191delTATG NP_001395364.1:p.Cys64Argfs frameshift NM_001408436.1:c.188_191delTATG NP_001395365.1:p.Cys64Argfs frameshift NM_001408437.1:c.188_191delTATG NP_001395366.1:p.Cys64Argfs frameshift NM_001408438.1:c.188_191delTATG NP_001395367.1:p.Cys64Argfs frameshift NM_001408439.1:c.188_191delTATG NP_001395368.1:p.Cys64Argfs frameshift NM_001408440.1:c.188_191delTATG NP_001395369.1:p.Cys64Argfs frameshift NM_001408441.1:c.188_191delTATG NP_001395370.1:p.Cys64Argfs frameshift NM_001408442.1:c.188_191delTATG NP_001395371.1:p.Cys64Argfs frameshift NM_001408443.1:c.188_191delTATG NP_001395372.1:p.Cys64Argfs frameshift NM_001408444.1:c.188_191delTATG NP_001395373.1:p.Cys64Argfs frameshift NM_001408445.1:c.188_191delTATG NP_001395374.1:p.Cys64Argfs frameshift NM_001408446.1:c.188_191delTATG NP_001395375.1:p.Cys64Argfs frameshift NM_001408447.1:c.188_191delTATG NP_001395376.1:p.Cys64Argfs frameshift NM_001408448.1:c.188_191delTATG NP_001395377.1:p.Cys64Argfs frameshift NM_001408450.1:c.188_191delTATG NP_001395379.1:p.Cys64Argfs frameshift NM_001408452.1:c.47_50delTATG NP_001395381.1:p.Cys17Argfs frameshift NM_001408453.1:c.47_50delTATG NP_001395382.1:p.Cys17Argfs frameshift NM_001408454.1:c.47_50delTATG NP_001395383.1:p.Cys17Argfs frameshift NM_001408455.1:c.47_50delTATG NP_001395384.1:p.Cys17Argfs frameshift NM_001408456.1:c.47_50delTATG NP_001395385.1:p.Cys17Argfs frameshift NM_001408457.1:c.47_50delTATG NP_001395386.1:p.Cys17Argfs frameshift NM_001408458.1:c.47_50delTATG NP_001395387.1:p.Cys17Argfs frameshift NM_001408459.1:c.47_50delTATG NP_001395388.1:p.Cys17Argfs frameshift NM_001408460.1:c.47_50delTATG NP_001395389.1:p.Cys17Argfs frameshift NM_001408461.1:c.47_50delTATG NP_001395390.1:p.Cys17Argfs frameshift NM_001408462.1:c.47_50delTATG NP_001395391.1:p.Cys17Argfs frameshift NM_001408463.1:c.47_50delTATG NP_001395392.1:p.Cys17Argfs frameshift NM_001408464.1:c.47_50delTATG NP_001395393.1:p.Cys17Argfs frameshift NM_001408465.1:c.47_50delTATG NP_001395394.1:p.Cys17Argfs frameshift NM_001408466.1:c.47_50delTATG NP_001395395.1:p.Cys17Argfs frameshift NM_001408467.1:c.47_50delTATG NP_001395396.1:p.Cys17Argfs frameshift NM_001408468.1:c.47_50delTATG NP_001395397.1:p.Cys17Argfs frameshift NM_001408469.1:c.47_50delTATG NP_001395398.1:p.Cys17Argfs frameshift NM_001408470.1:c.47_50delTATG NP_001395399.1:p.Cys17Argfs frameshift NM_001408472.1:c.188_191delTATG NP_001395401.1:p.Cys64Argfs frameshift NM_001408473.1:c.188_191delTATG NP_001395402.1:p.Cys64Argfs frameshift NM_001408494.1:c.188_191delTATG NP_001395423.1:p.Cys64Argfs frameshift NM_001408495.1:c.188_191delTATG NP_001395424.1:p.Cys64Argfs frameshift NM_001408496.1:c.47_50delTATG NP_001395425.1:p.Cys17Argfs frameshift NM_001408497.1:c.47_50delTATG NP_001395426.1:p.Cys17Argfs frameshift NM_001408498.1:c.47_50delTATG NP_001395427.1:p.Cys17Argfs frameshift NM_001408499.1:c.47_50delTATG NP_001395428.1:p.Cys17Argfs frameshift NM_001408500.1:c.47_50delTATG NP_001395429.1:p.Cys17Argfs frameshift NM_001408501.1:c.47_50delTATG NP_001395430.1:p.Cys17Argfs frameshift NM_001408503.1:c.47_50delTATG NP_001395432.1:p.Cys17Argfs frameshift NM_001408504.1:c.47_50delTATG NP_001395433.1:p.Cys17Argfs frameshift NM_001408505.1:c.47_50delTATG NP_001395434.1:p.Cys17Argfs frameshift NM_001408511.1:c.47_50delTATG NP_001395440.1:p.Cys17Argfs frameshift NM_007294.3:c.190_193delTGTA frameshift NM_007297.4:c.49_52del NP_009228.2:p.Cys17fs frameshift NM_007298.4:c.188_191delTATG NP_009229.2:p.Cys64Argfs frameshift NM_007299.4:c.190_193del NP_009230.2:p.Cys64fs frameshift NM_007300.4:c.190_193del NP_009231.2:p.Cys64fs frameshift NM_007304.2:c.188_191delTATG NP_009235.2:p.Cys64Argfs frameshift NC_000017.11:g.43106477_43106480del NC_000017.10:g.41258494_41258497del NG_005905.2:g.111506_111509del LRG_292:g.111506_111509del LRG_292t1:c.188_191del LRG_292p1:p.Cys64Argfs - Protein change
- C64fs, C17fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43106474:TACATA:TA
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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 | ||
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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 |
12752 | 14513 |
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. |
---|---|---|---|---|
not provided (1) |
no classification provided
|
- | RCV000577152.9 | |
Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661067.9 |
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. |
|
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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: SCV000783314.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
not provided
(-)
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no classification provided
Method: literature only
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679221.1
First in ClinVar: Jan 25, 2018 Last updated: Jan 25, 2018 |
|
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
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. | Sugano K | Cancer science | 2008 | PMID: 19016756 |
Text-mined citations for rs397508917 ...
HelpRecord last updated Apr 15, 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.