ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.959del (p.Arg320fs)
criteria provided, single submitter. Learn more about how ClinVar calculates review status.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.959del (p.Arg320fs)
Variation ID: 3236845 Accession: VCV003236845.2
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094572 (GRCh38) [ NCBI UCSC ] 17: 41246589 (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 Jun 2, 2024 Mar 29, 2025 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.959del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg320fs frameshift NM_007294.4:c.959delG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
frameshift NM_001407571.1:c.746del NP_001394500.1:p.Arg249fs frameshift NM_001407581.1:c.959del NP_001394510.1:p.Arg320fs frameshift NM_001407582.1:c.959del NP_001394511.1:p.Arg320fs frameshift NM_001407583.1:c.959del NP_001394512.1:p.Arg320fs frameshift NM_001407585.1:c.959del NP_001394514.1:p.Arg320fs frameshift NM_001407587.1:c.956del NP_001394516.1:p.Arg319fs frameshift NM_001407590.1:c.956del NP_001394519.1:p.Arg319fs frameshift NM_001407591.1:c.956del NP_001394520.1:p.Arg319fs frameshift NM_001407593.1:c.959del NP_001394522.1:p.Arg320fs frameshift NM_001407594.1:c.959del NP_001394523.1:p.Arg320fs frameshift NM_001407596.1:c.959del NP_001394525.1:p.Arg320fs frameshift NM_001407597.1:c.959del NP_001394526.1:p.Arg320fs frameshift NM_001407598.1:c.959del NP_001394527.1:p.Arg320fs frameshift NM_001407602.1:c.959del NP_001394531.1:p.Arg320fs frameshift NM_001407603.1:c.959del NP_001394532.1:p.Arg320fs frameshift NM_001407605.1:c.959del NP_001394534.1:p.Arg320fs frameshift NM_001407610.1:c.956del NP_001394539.1:p.Arg319fs frameshift NM_001407611.1:c.956del NP_001394540.1:p.Arg319fs frameshift NM_001407612.1:c.956del NP_001394541.1:p.Arg319fs frameshift NM_001407613.1:c.956del NP_001394542.1:p.Arg319fs frameshift NM_001407614.1:c.956del NP_001394543.1:p.Arg319fs frameshift NM_001407615.1:c.956del NP_001394544.1:p.Arg319fs frameshift NM_001407616.1:c.959del NP_001394545.1:p.Arg320fs frameshift NM_001407617.1:c.959del NP_001394546.1:p.Arg320fs frameshift NM_001407618.1:c.959del NP_001394547.1:p.Arg320fs frameshift NM_001407619.1:c.959del NP_001394548.1:p.Arg320fs frameshift NM_001407620.1:c.959del NP_001394549.1:p.Arg320fs frameshift NM_001407621.1:c.959del NP_001394550.1:p.Arg320fs frameshift NM_001407622.1:c.959del NP_001394551.1:p.Arg320fs frameshift NM_001407623.1:c.959del NP_001394552.1:p.Arg320fs frameshift NM_001407624.1:c.959del NP_001394553.1:p.Arg320fs frameshift NM_001407625.1:c.959del NP_001394554.1:p.Arg320fs frameshift NM_001407626.1:c.959del NP_001394555.1:p.Arg320fs frameshift NM_001407627.1:c.956del NP_001394556.1:p.Arg319fs frameshift NM_001407628.1:c.956del NP_001394557.1:p.Arg319fs frameshift NM_001407629.1:c.956del NP_001394558.1:p.Arg319fs frameshift NM_001407630.1:c.956del NP_001394559.1:p.Arg319fs frameshift NM_001407631.1:c.956del NP_001394560.1:p.Arg319fs frameshift NM_001407632.1:c.956del NP_001394561.1:p.Arg319fs frameshift NM_001407633.1:c.956del NP_001394562.1:p.Arg319fs frameshift NM_001407634.1:c.956del NP_001394563.1:p.Arg319fs frameshift NM_001407635.1:c.956del NP_001394564.1:p.Arg319fs frameshift NM_001407636.1:c.956del NP_001394565.1:p.Arg319fs frameshift NM_001407637.1:c.956del NP_001394566.1:p.Arg319fs frameshift NM_001407638.1:c.956del NP_001394567.1:p.Arg319fs frameshift NM_001407639.1:c.959del NP_001394568.1:p.Arg320fs frameshift NM_001407640.1:c.959del NP_001394569.1:p.Arg320fs frameshift NM_001407641.1:c.959del NP_001394570.1:p.Arg320fs frameshift NM_001407642.1:c.959del NP_001394571.1:p.Arg320fs frameshift NM_001407644.1:c.956del NP_001394573.1:p.Arg319fs frameshift NM_001407645.1:c.956del NP_001394574.1:p.Arg319fs frameshift NM_001407646.1:c.950del NP_001394575.1:p.Arg317fs frameshift NM_001407647.1:c.950del NP_001394576.1:p.Arg317fs frameshift NM_001407648.1:c.836del NP_001394577.1:p.Arg279fs frameshift NM_001407649.1:c.833del NP_001394578.1:p.Arg278fs frameshift NM_001407652.1:c.959del NP_001394581.1:p.Arg320fs frameshift NM_001407653.1:c.881del NP_001394582.1:p.Arg294fs frameshift NM_001407654.1:c.881del NP_001394583.1:p.Arg294fs frameshift NM_001407655.1:c.881del NP_001394584.1:p.Arg294fs frameshift NM_001407656.1:c.881del NP_001394585.1:p.Arg294fs frameshift NM_001407657.1:c.881del NP_001394586.1:p.Arg294fs frameshift NM_001407658.1:c.881del NP_001394587.1:p.Arg294fs frameshift NM_001407659.1:c.878del NP_001394588.1:p.Arg293fs frameshift NM_001407660.1:c.878del NP_001394589.1:p.Arg293fs frameshift NM_001407661.1:c.878del NP_001394590.1:p.Arg293fs frameshift NM_001407662.1:c.878del NP_001394591.1:p.Arg293fs frameshift NM_001407663.1:c.881del NP_001394592.1:p.Arg294fs frameshift NM_001407664.1:c.836del NP_001394593.1:p.Arg279fs frameshift NM_001407665.1:c.836del NP_001394594.1:p.Arg279fs frameshift NM_001407666.1:c.836del NP_001394595.1:p.Arg279fs frameshift NM_001407667.1:c.836del NP_001394596.1:p.Arg279fs frameshift NM_001407668.1:c.836del NP_001394597.1:p.Arg279fs frameshift NM_001407669.1:c.836del NP_001394598.1:p.Arg279fs frameshift NM_001407670.1:c.833del NP_001394599.1:p.Arg278fs frameshift NM_001407671.1:c.833del NP_001394600.1:p.Arg278fs frameshift NM_001407672.1:c.833del NP_001394601.1:p.Arg278fs frameshift NM_001407673.1:c.833del NP_001394602.1:p.Arg278fs frameshift NM_001407674.1:c.836del NP_001394603.1:p.Arg279fs frameshift NM_001407675.1:c.836del NP_001394604.1:p.Arg279fs frameshift NM_001407676.1:c.836del NP_001394605.1:p.Arg279fs frameshift NM_001407677.1:c.836del NP_001394606.1:p.Arg279fs frameshift NM_001407678.1:c.836del NP_001394607.1:p.Arg279fs frameshift NM_001407679.1:c.836del NP_001394608.1:p.Arg279fs frameshift NM_001407680.1:c.836del NP_001394609.1:p.Arg279fs frameshift NM_001407681.1:c.836del NP_001394610.1:p.Arg279fs frameshift NM_001407682.1:c.836del NP_001394611.1:p.Arg279fs frameshift NM_001407683.1:c.836del NP_001394612.1:p.Arg279fs frameshift NM_001407684.1:c.959del NP_001394613.1:p.Arg320fs frameshift NM_001407685.1:c.833del NP_001394614.1:p.Arg278fs frameshift NM_001407686.1:c.833del NP_001394615.1:p.Arg278fs frameshift NM_001407687.1:c.833del NP_001394616.1:p.Arg278fs frameshift NM_001407688.1:c.833del NP_001394617.1:p.Arg278fs frameshift NM_001407689.1:c.833del NP_001394618.1:p.Arg278fs frameshift NM_001407690.1:c.833del NP_001394619.1:p.Arg278fs frameshift NM_001407691.1:c.833del NP_001394620.1:p.Arg278fs frameshift NM_001407692.1:c.818del NP_001394621.1:p.Arg273fs frameshift NM_001407694.1:c.818del NP_001394623.1:p.Arg273fs frameshift NM_001407695.1:c.818del NP_001394624.1:p.Arg273fs frameshift NM_001407696.1:c.818del NP_001394625.1:p.Arg273fs frameshift NM_001407697.1:c.818del NP_001394626.1:p.Arg273fs frameshift NM_001407698.1:c.818del NP_001394627.1:p.Arg273fs frameshift NM_001407724.1:c.818del NP_001394653.1:p.Arg273fs frameshift NM_001407725.1:c.818del NP_001394654.1:p.Arg273fs frameshift NM_001407726.1:c.818del NP_001394655.1:p.Arg273fs frameshift NM_001407727.1:c.818del NP_001394656.1:p.Arg273fs frameshift NM_001407728.1:c.818del NP_001394657.1:p.Arg273fs frameshift NM_001407729.1:c.818del NP_001394658.1:p.Arg273fs frameshift NM_001407730.1:c.818del NP_001394659.1:p.Arg273fs frameshift NM_001407731.1:c.818del NP_001394660.1:p.Arg273fs frameshift NM_001407732.1:c.818del NP_001394661.1:p.Arg273fs frameshift NM_001407733.1:c.818del NP_001394662.1:p.Arg273fs frameshift NM_001407734.1:c.818del NP_001394663.1:p.Arg273fs frameshift NM_001407735.1:c.818del NP_001394664.1:p.Arg273fs frameshift NM_001407736.1:c.818del NP_001394665.1:p.Arg273fs frameshift NM_001407737.1:c.818del NP_001394666.1:p.Arg273fs frameshift NM_001407738.1:c.818del NP_001394667.1:p.Arg273fs frameshift NM_001407739.1:c.818del NP_001394668.1:p.Arg273fs frameshift NM_001407740.1:c.815del NP_001394669.1:p.Arg272fs frameshift NM_001407741.1:c.815del NP_001394670.1:p.Arg272fs frameshift NM_001407742.1:c.815del NP_001394671.1:p.Arg272fs frameshift NM_001407743.1:c.815del NP_001394672.1:p.Arg272fs frameshift NM_001407744.1:c.815del NP_001394673.1:p.Arg272fs frameshift NM_001407745.1:c.815del NP_001394674.1:p.Arg272fs frameshift NM_001407746.1:c.815del NP_001394675.1:p.Arg272fs frameshift NM_001407747.1:c.815del NP_001394676.1:p.Arg272fs frameshift NM_001407748.1:c.815del NP_001394677.1:p.Arg272fs frameshift NM_001407749.1:c.815del NP_001394678.1:p.Arg272fs frameshift NM_001407750.1:c.818del NP_001394679.1:p.Arg273fs frameshift NM_001407751.1:c.818del NP_001394680.1:p.Arg273fs frameshift NM_001407752.1:c.818del NP_001394681.1:p.Arg273fs frameshift NM_001407838.1:c.815del NP_001394767.1:p.Arg272fs frameshift NM_001407839.1:c.815del NP_001394768.1:p.Arg272fs frameshift NM_001407841.1:c.815del NP_001394770.1:p.Arg272fs frameshift NM_001407842.1:c.815del NP_001394771.1:p.Arg272fs frameshift NM_001407843.1:c.815del NP_001394772.1:p.Arg272fs frameshift NM_001407844.1:c.815del NP_001394773.1:p.Arg272fs frameshift NM_001407845.1:c.815del NP_001394774.1:p.Arg272fs frameshift NM_001407846.1:c.815del NP_001394775.1:p.Arg272fs frameshift NM_001407847.1:c.815del NP_001394776.1:p.Arg272fs frameshift NM_001407848.1:c.815del NP_001394777.1:p.Arg272fs frameshift NM_001407849.1:c.815del NP_001394778.1:p.Arg272fs frameshift NM_001407850.1:c.818del NP_001394779.1:p.Arg273fs frameshift NM_001407851.1:c.818del NP_001394780.1:p.Arg273fs frameshift NM_001407852.1:c.818del NP_001394781.1:p.Arg273fs frameshift NM_001407853.1:c.746del NP_001394782.1:p.Arg249fs frameshift NM_001407854.1:c.959del NP_001394783.1:p.Arg320fs frameshift NM_001407858.1:c.959del NP_001394787.1:p.Arg320fs frameshift NM_001407859.1:c.959del NP_001394788.1:p.Arg320fs frameshift NM_001407860.1:c.956del NP_001394789.1:p.Arg319fs frameshift NM_001407861.1:c.956del NP_001394790.1:p.Arg319fs frameshift NM_001407862.1:c.758del NP_001394791.1:p.Arg253fs frameshift NM_001407863.1:c.836del NP_001394792.1:p.Arg279fs frameshift NM_001407874.1:c.755del NP_001394803.1:p.Arg252fs frameshift NM_001407875.1:c.755del NP_001394804.1:p.Arg252fs frameshift NM_001407879.1:c.749del NP_001394808.1:p.Arg250fs frameshift NM_001407881.1:c.749del NP_001394810.1:p.Arg250fs frameshift NM_001407882.1:c.749del NP_001394811.1:p.Arg250fs frameshift NM_001407884.1:c.749del NP_001394813.1:p.Arg250fs frameshift NM_001407885.1:c.749del NP_001394814.1:p.Arg250fs frameshift NM_001407886.1:c.749del NP_001394815.1:p.Arg250fs frameshift NM_001407887.1:c.749del NP_001394816.1:p.Arg250fs frameshift NM_001407889.1:c.749del NP_001394818.1:p.Arg250fs frameshift NM_001407894.1:c.746del NP_001394823.1:p.Arg249fs frameshift NM_001407895.1:c.746del NP_001394824.1:p.Arg249fs frameshift NM_001407896.1:c.746del NP_001394825.1:p.Arg249fs frameshift NM_001407897.1:c.746del NP_001394826.1:p.Arg249fs frameshift NM_001407898.1:c.746del NP_001394827.1:p.Arg249fs frameshift NM_001407899.1:c.746del NP_001394828.1:p.Arg249fs frameshift NM_001407900.1:c.749del NP_001394829.1:p.Arg250fs frameshift NM_001407902.1:c.749del NP_001394831.1:p.Arg250fs frameshift NM_001407904.1:c.749del NP_001394833.1:p.Arg250fs frameshift NM_001407906.1:c.749del NP_001394835.1:p.Arg250fs frameshift NM_001407907.1:c.749del NP_001394836.1:p.Arg250fs frameshift NM_001407908.1:c.749del NP_001394837.1:p.Arg250fs frameshift NM_001407909.1:c.749del NP_001394838.1:p.Arg250fs frameshift NM_001407910.1:c.749del NP_001394839.1:p.Arg250fs frameshift NM_001407915.1:c.746del NP_001394844.1:p.Arg249fs frameshift NM_001407916.1:c.746del NP_001394845.1:p.Arg249fs frameshift NM_001407917.1:c.746del NP_001394846.1:p.Arg249fs frameshift NM_001407918.1:c.746del NP_001394847.1:p.Arg249fs frameshift NM_001407919.1:c.836del NP_001394848.1:p.Arg279fs frameshift NM_001407920.1:c.695del NP_001394849.1:p.Arg232fs frameshift NM_001407921.1:c.695del NP_001394850.1:p.Arg232fs frameshift NM_001407922.1:c.695del NP_001394851.1:p.Arg232fs frameshift NM_001407923.1:c.695del NP_001394852.1:p.Arg232fs frameshift NM_001407924.1:c.695del NP_001394853.1:p.Arg232fs frameshift NM_001407925.1:c.695del NP_001394854.1:p.Arg232fs frameshift NM_001407926.1:c.695del NP_001394855.1:p.Arg232fs frameshift NM_001407927.1:c.695del NP_001394856.1:p.Arg232fs frameshift NM_001407928.1:c.695del NP_001394857.1:p.Arg232fs frameshift NM_001407929.1:c.695del NP_001394858.1:p.Arg232fs frameshift NM_001407930.1:c.692del NP_001394859.1:p.Arg231fs frameshift NM_001407931.1:c.692del NP_001394860.1:p.Arg231fs frameshift NM_001407932.1:c.692del NP_001394861.1:p.Arg231fs frameshift NM_001407933.1:c.695del NP_001394862.1:p.Arg232fs frameshift NM_001407934.1:c.692del NP_001394863.1:p.Arg231fs frameshift NM_001407935.1:c.695del NP_001394864.1:p.Arg232fs frameshift NM_001407936.1:c.692del NP_001394865.1:p.Arg231fs frameshift NM_001407937.1:c.836del NP_001394866.1:p.Arg279fs frameshift NM_001407938.1:c.836del NP_001394867.1:p.Arg279fs frameshift NM_001407939.1:c.836del NP_001394868.1:p.Arg279fs frameshift NM_001407940.1:c.833del NP_001394869.1:p.Arg278fs frameshift NM_001407941.1:c.833del NP_001394870.1:p.Arg278fs frameshift NM_001407942.1:c.818del NP_001394871.1:p.Arg273fs frameshift NM_001407943.1:c.815del NP_001394872.1:p.Arg272fs frameshift NM_001407944.1:c.818del NP_001394873.1:p.Arg273fs frameshift NM_001407945.1:c.818del NP_001394874.1:p.Arg273fs frameshift NM_001407946.1:c.626del NP_001394875.1:p.Arg209fs frameshift NM_001407947.1:c.626del NP_001394876.1:p.Arg209fs frameshift NM_001407948.1:c.626del NP_001394877.1:p.Arg209fs frameshift NM_001407949.1:c.626del NP_001394878.1:p.Arg209fs frameshift NM_001407950.1:c.626del NP_001394879.1:p.Arg209fs frameshift NM_001407951.1:c.626del NP_001394880.1:p.Arg209fs frameshift NM_001407952.1:c.626del NP_001394881.1:p.Arg209fs frameshift NM_001407953.1:c.626del NP_001394882.1:p.Arg209fs frameshift NM_001407954.1:c.623del NP_001394883.1:p.Arg208fs frameshift NM_001407955.1:c.623del NP_001394884.1:p.Arg208fs frameshift NM_001407956.1:c.623del NP_001394885.1:p.Arg208fs frameshift NM_001407957.1:c.626del NP_001394886.1:p.Arg209fs frameshift NM_001407958.1:c.623del NP_001394887.1:p.Arg208fs frameshift NM_001407959.1:c.578del NP_001394888.1:p.Arg193fs frameshift NM_001407960.1:c.578del NP_001394889.1:p.Arg193fs frameshift NM_001407962.1:c.575del NP_001394891.1:p.Arg192fs frameshift NM_001407963.1:c.578del NP_001394892.1:p.Arg193fs frameshift NM_001407964.1:c.815del NP_001394893.1:p.Arg272fs frameshift NM_001407965.1:c.455del NP_001394894.1:p.Arg152fs frameshift NM_001407966.1:c.71del NP_001394895.1:p.Arg24fs frameshift NM_001407967.1:c.71del NP_001394896.1:p.Arg24fs frameshift NM_001407968.1:c.787+172del intron variant NM_001407969.1:c.787+172del intron variant NM_001407970.1:c.787+172del intron variant NM_001407971.1:c.787+172del intron variant NM_001407972.1:c.784+172del intron variant NM_001407973.1:c.787+172del intron variant NM_001407974.1:c.787+172del intron variant NM_001407975.1:c.787+172del intron variant NM_001407976.1:c.787+172del intron variant NM_001407977.1:c.787+172del intron variant NM_001407978.1:c.787+172del intron variant NM_001407979.1:c.787+172del intron variant NM_001407980.1:c.787+172del intron variant NM_001407981.1:c.787+172del intron variant NM_001407982.1:c.787+172del intron variant NM_001407983.1:c.787+172del intron variant NM_001407984.1:c.784+172del intron variant NM_001407985.1:c.784+172del intron variant NM_001407986.1:c.784+172del intron variant NM_001407990.1:c.787+172del intron variant NM_001407991.1:c.784+172del intron variant NM_001407992.1:c.784+172del intron variant NM_001407993.1:c.787+172del intron variant NM_001408392.1:c.784+172del intron variant NM_001408396.1:c.784+172del intron variant NM_001408397.1:c.784+172del intron variant NM_001408398.1:c.784+172del intron variant NM_001408399.1:c.784+172del intron variant NM_001408400.1:c.784+172del intron variant NM_001408401.1:c.784+172del intron variant NM_001408402.1:c.784+172del intron variant NM_001408403.1:c.787+172del intron variant NM_001408404.1:c.787+172del intron variant NM_001408406.1:c.790+169del intron variant NM_001408407.1:c.784+172del intron variant NM_001408408.1:c.778+172del intron variant NM_001408409.1:c.709+172del intron variant NM_001408410.1:c.646+172del intron variant NM_001408411.1:c.709+172del intron variant NM_001408412.1:c.709+172del intron variant NM_001408413.1:c.706+172del intron variant NM_001408414.1:c.709+172del intron variant NM_001408415.1:c.709+172del intron variant NM_001408416.1:c.706+172del intron variant NM_001408418.1:c.670+1274del intron variant NM_001408419.1:c.670+1274del intron variant NM_001408420.1:c.670+1274del intron variant NM_001408421.1:c.667+1274del intron variant NM_001408422.1:c.670+1274del intron variant NM_001408423.1:c.670+1274del intron variant NM_001408424.1:c.667+1274del intron variant NM_001408425.1:c.664+172del intron variant NM_001408426.1:c.664+172del intron variant NM_001408427.1:c.664+172del intron variant NM_001408428.1:c.664+172del intron variant NM_001408429.1:c.664+172del intron variant NM_001408430.1:c.664+172del intron variant NM_001408431.1:c.667+1274del intron variant NM_001408432.1:c.661+172del intron variant NM_001408433.1:c.661+172del intron variant NM_001408434.1:c.661+172del intron variant NM_001408435.1:c.661+172del intron variant NM_001408436.1:c.664+172del intron variant NM_001408437.1:c.664+172del intron variant NM_001408438.1:c.664+172del intron variant NM_001408439.1:c.664+172del intron variant NM_001408440.1:c.664+172del intron variant NM_001408441.1:c.664+172del intron variant NM_001408442.1:c.664+172del intron variant NM_001408443.1:c.664+172del intron variant NM_001408444.1:c.664+172del intron variant NM_001408445.1:c.661+172del intron variant NM_001408446.1:c.661+172del intron variant NM_001408447.1:c.661+172del intron variant NM_001408448.1:c.661+172del intron variant NM_001408450.1:c.661+172del intron variant NM_001408451.1:c.652+172del intron variant NM_001408452.1:c.646+172del intron variant NM_001408453.1:c.646+172del intron variant NM_001408454.1:c.646+172del intron variant NM_001408455.1:c.646+172del intron variant NM_001408456.1:c.646+172del intron variant NM_001408457.1:c.646+172del intron variant NM_001408458.1:c.646+172del intron variant NM_001408459.1:c.646+172del intron variant NM_001408460.1:c.646+172del intron variant NM_001408461.1:c.646+172del intron variant NM_001408462.1:c.643+172del intron variant NM_001408463.1:c.643+172del intron variant NM_001408464.1:c.643+172del intron variant NM_001408465.1:c.643+172del intron variant NM_001408466.1:c.646+172del intron variant NM_001408467.1:c.646+172del intron variant NM_001408468.1:c.643+172del intron variant NM_001408469.1:c.646+172del intron variant NM_001408470.1:c.643+172del intron variant NM_001408472.1:c.787+172del intron variant NM_001408473.1:c.784+172del intron variant NM_001408474.1:c.586+172del intron variant NM_001408475.1:c.583+172del intron variant NM_001408476.1:c.586+172del intron variant NM_001408478.1:c.577+172del intron variant NM_001408479.1:c.577+172del intron variant NM_001408480.1:c.577+172del intron variant NM_001408481.1:c.577+172del intron variant NM_001408482.1:c.577+172del intron variant NM_001408483.1:c.577+172del intron variant NM_001408484.1:c.577+172del intron variant NM_001408485.1:c.577+172del intron variant NM_001408489.1:c.577+172del intron variant NM_001408490.1:c.574+172del intron variant NM_001408491.1:c.574+172del intron variant NM_001408492.1:c.577+172del intron variant NM_001408493.1:c.574+172del intron variant NM_001408494.1:c.548-3540del intron variant NM_001408495.1:c.545-3540del intron variant NM_001408496.1:c.523+172del intron variant NM_001408497.1:c.523+172del intron variant NM_001408498.1:c.523+172del intron variant NM_001408499.1:c.523+172del intron variant NM_001408500.1:c.523+172del intron variant NM_001408501.1:c.523+172del intron variant NM_001408502.1:c.454+172del intron variant NM_001408503.1:c.520+172del intron variant NM_001408504.1:c.520+172del intron variant NM_001408505.1:c.520+172del intron variant NM_001408506.1:c.460+1274del intron variant NM_001408507.1:c.460+1274del intron variant NM_001408508.1:c.451+172del intron variant NM_001408509.1:c.451+172del intron variant NM_001408510.1:c.406+172del intron variant NM_001408511.1:c.404-3540del intron variant NM_001408512.1:c.283+172del intron variant NM_001408513.1:c.577+172del intron variant NM_001408514.1:c.577+172del intron variant NM_007297.4:c.818del NP_009228.2:p.Arg273fs frameshift NM_007298.4:c.787+172del intron variant NM_007299.4:c.787+172del intron variant NM_007300.4:c.959del NP_009231.2:p.Arg320fs frameshift NR_027676.2:n.1136delG NC_000017.11:g.43094572del NC_000017.10:g.41246589del NG_005905.2:g.123412del LRG_292:g.123412del LRG_292t1:c.959del LRG_292p1:p.Arg320Asnfs - Protein change
- R152fs, R192fs, R193fs, R208fs, R209fs, R231fs, R232fs, R249fs, R24fs, R250fs, R252fs, R253fs, R272fs, R273fs, R278fs, R279fs, R293fs, R294fs, R317fs, R319fs, R320fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094571:C:
-
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.
- -
- Links
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 |
13378 | 15255 | |
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
|
- | RCV004556974.3 |
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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Likely pathogenic
(-)
C
Contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
inherited
|
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
Accession: SCV005045680.2
First in ClinVar: Jun 02, 2024 Last updated: Mar 29, 2025 |
|
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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants. | Salazar Saez R | Hereditary cancer in clinical practice | 2024 | DOI: 10.1186/s13053-024-00296-2 |
Text-mined citations for this variant ...
HelpRecord last updated Mar 29, 2025
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.