ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1677del (p.Asp560fs)
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
-
NM_007294.4(BRCA1):c.1677del (p.Asp560fs)
Variation ID: 1071595 Accession: VCV001071595.14
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093854 (GRCh38) [ NCBI UCSC ] 17: 41245871 (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 May 10, 2021 Feb 20, 2024 Aug 23, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1677del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp560fs frameshift NM_001407571.1:c.1464del NP_001394500.1:p.Asp489fs frameshift NM_001407581.1:c.1677del NP_001394510.1:p.Asp560fs frameshift NM_001407582.1:c.1677del NP_001394511.1:p.Asp560fs frameshift NM_001407583.1:c.1677del NP_001394512.1:p.Asp560fs frameshift NM_001407585.1:c.1677del NP_001394514.1:p.Asp560fs frameshift NM_001407587.1:c.1674del NP_001394516.1:p.Asp559fs frameshift NM_001407590.1:c.1674del NP_001394519.1:p.Asp559fs frameshift NM_001407591.1:c.1674del NP_001394520.1:p.Asp559fs frameshift NM_001407593.1:c.1677del NP_001394522.1:p.Asp560fs frameshift NM_001407594.1:c.1677del NP_001394523.1:p.Asp560fs frameshift NM_001407596.1:c.1677del NP_001394525.1:p.Asp560fs frameshift NM_001407597.1:c.1677del NP_001394526.1:p.Asp560fs frameshift NM_001407598.1:c.1677del NP_001394527.1:p.Asp560fs frameshift NM_001407602.1:c.1677del NP_001394531.1:p.Asp560fs frameshift NM_001407603.1:c.1677del NP_001394532.1:p.Asp560fs frameshift NM_001407605.1:c.1677del NP_001394534.1:p.Asp560fs frameshift NM_001407610.1:c.1674del NP_001394539.1:p.Asp559fs frameshift NM_001407611.1:c.1674del NP_001394540.1:p.Asp559fs frameshift NM_001407612.1:c.1674del NP_001394541.1:p.Asp559fs frameshift NM_001407613.1:c.1674del NP_001394542.1:p.Asp559fs frameshift NM_001407614.1:c.1674del NP_001394543.1:p.Asp559fs frameshift NM_001407615.1:c.1674del NP_001394544.1:p.Asp559fs frameshift NM_001407616.1:c.1677del NP_001394545.1:p.Asp560fs frameshift NM_001407617.1:c.1677del NP_001394546.1:p.Asp560fs frameshift NM_001407618.1:c.1677del NP_001394547.1:p.Asp560fs frameshift NM_001407619.1:c.1677del NP_001394548.1:p.Asp560fs frameshift NM_001407620.1:c.1677del NP_001394549.1:p.Asp560fs frameshift NM_001407621.1:c.1677del NP_001394550.1:p.Asp560fs frameshift NM_001407622.1:c.1677del NP_001394551.1:p.Asp560fs frameshift NM_001407623.1:c.1677del NP_001394552.1:p.Asp560fs frameshift NM_001407624.1:c.1677del NP_001394553.1:p.Asp560fs frameshift NM_001407625.1:c.1677del NP_001394554.1:p.Asp560fs frameshift NM_001407626.1:c.1677del NP_001394555.1:p.Asp560fs frameshift NM_001407627.1:c.1674del NP_001394556.1:p.Asp559fs frameshift NM_001407628.1:c.1674del NP_001394557.1:p.Asp559fs frameshift NM_001407629.1:c.1674del NP_001394558.1:p.Asp559fs frameshift NM_001407630.1:c.1674del NP_001394559.1:p.Asp559fs frameshift NM_001407631.1:c.1674del NP_001394560.1:p.Asp559fs frameshift NM_001407632.1:c.1674del NP_001394561.1:p.Asp559fs frameshift NM_001407633.1:c.1674del NP_001394562.1:p.Asp559fs frameshift NM_001407634.1:c.1674del NP_001394563.1:p.Asp559fs frameshift NM_001407635.1:c.1674del NP_001394564.1:p.Asp559fs frameshift NM_001407636.1:c.1674del NP_001394565.1:p.Asp559fs frameshift NM_001407637.1:c.1674del NP_001394566.1:p.Asp559fs frameshift NM_001407638.1:c.1674del NP_001394567.1:p.Asp559fs frameshift NM_001407639.1:c.1677del NP_001394568.1:p.Asp560fs frameshift NM_001407640.1:c.1677del NP_001394569.1:p.Asp560fs frameshift NM_001407641.1:c.1677del NP_001394570.1:p.Asp560fs frameshift NM_001407642.1:c.1677del NP_001394571.1:p.Asp560fs frameshift NM_001407644.1:c.1674del NP_001394573.1:p.Asp559fs frameshift NM_001407645.1:c.1674del NP_001394574.1:p.Asp559fs frameshift NM_001407646.1:c.1668del NP_001394575.1:p.Asp557fs frameshift NM_001407647.1:c.1668del NP_001394576.1:p.Asp557fs frameshift NM_001407648.1:c.1554del NP_001394577.1:p.Asp519fs frameshift NM_001407649.1:c.1551del NP_001394578.1:p.Asp518fs frameshift NM_001407652.1:c.1677del NP_001394581.1:p.Asp560fs frameshift NM_001407653.1:c.1599del NP_001394582.1:p.Asp534fs frameshift NM_001407654.1:c.1599del NP_001394583.1:p.Asp534fs frameshift NM_001407655.1:c.1599del NP_001394584.1:p.Asp534fs frameshift NM_001407656.1:c.1599del NP_001394585.1:p.Asp534fs frameshift NM_001407657.1:c.1599del NP_001394586.1:p.Asp534fs frameshift NM_001407658.1:c.1599del NP_001394587.1:p.Asp534fs frameshift NM_001407659.1:c.1596del NP_001394588.1:p.Asp533fs frameshift NM_001407660.1:c.1596del NP_001394589.1:p.Asp533fs frameshift NM_001407661.1:c.1596del NP_001394590.1:p.Asp533fs frameshift NM_001407662.1:c.1596del NP_001394591.1:p.Asp533fs frameshift NM_001407663.1:c.1599del NP_001394592.1:p.Asp534fs frameshift NM_001407664.1:c.1554del NP_001394593.1:p.Asp519fs frameshift NM_001407665.1:c.1554del NP_001394594.1:p.Asp519fs frameshift NM_001407666.1:c.1554del NP_001394595.1:p.Asp519fs frameshift NM_001407667.1:c.1554del NP_001394596.1:p.Asp519fs frameshift NM_001407668.1:c.1554del NP_001394597.1:p.Asp519fs frameshift NM_001407669.1:c.1554del NP_001394598.1:p.Asp519fs frameshift NM_001407670.1:c.1551del NP_001394599.1:p.Asp518fs frameshift NM_001407671.1:c.1551del NP_001394600.1:p.Asp518fs frameshift NM_001407672.1:c.1551del NP_001394601.1:p.Asp518fs frameshift NM_001407673.1:c.1551del NP_001394602.1:p.Asp518fs frameshift NM_001407674.1:c.1554del NP_001394603.1:p.Asp519fs frameshift NM_001407675.1:c.1554del NP_001394604.1:p.Asp519fs frameshift NM_001407676.1:c.1554del NP_001394605.1:p.Asp519fs frameshift NM_001407677.1:c.1554del NP_001394606.1:p.Asp519fs frameshift NM_001407678.1:c.1554del NP_001394607.1:p.Asp519fs frameshift NM_001407679.1:c.1554del NP_001394608.1:p.Asp519fs frameshift NM_001407680.1:c.1554del NP_001394609.1:p.Asp519fs frameshift NM_001407681.1:c.1554del NP_001394610.1:p.Asp519fs frameshift NM_001407682.1:c.1554del NP_001394611.1:p.Asp519fs frameshift NM_001407683.1:c.1554del NP_001394612.1:p.Asp519fs frameshift NM_001407684.1:c.1677del NP_001394613.1:p.Asp560fs frameshift NM_001407685.1:c.1551del NP_001394614.1:p.Asp518fs frameshift NM_001407686.1:c.1551del NP_001394615.1:p.Asp518fs frameshift NM_001407687.1:c.1551del NP_001394616.1:p.Asp518fs frameshift NM_001407688.1:c.1551del NP_001394617.1:p.Asp518fs frameshift NM_001407689.1:c.1551del NP_001394618.1:p.Asp518fs frameshift NM_001407690.1:c.1551del NP_001394619.1:p.Asp518fs frameshift NM_001407691.1:c.1551del NP_001394620.1:p.Asp518fs frameshift NM_001407692.1:c.1536del NP_001394621.1:p.Asp513fs frameshift NM_001407694.1:c.1536del NP_001394623.1:p.Asp513fs frameshift NM_001407695.1:c.1536del NP_001394624.1:p.Asp513fs frameshift NM_001407696.1:c.1536del NP_001394625.1:p.Asp513fs frameshift NM_001407697.1:c.1536del NP_001394626.1:p.Asp513fs frameshift NM_001407698.1:c.1536del NP_001394627.1:p.Asp513fs frameshift NM_001407724.1:c.1536del NP_001394653.1:p.Asp513fs frameshift NM_001407725.1:c.1536del NP_001394654.1:p.Asp513fs frameshift NM_001407726.1:c.1536del NP_001394655.1:p.Asp513fs frameshift NM_001407727.1:c.1536del NP_001394656.1:p.Asp513fs frameshift NM_001407728.1:c.1536del NP_001394657.1:p.Asp513fs frameshift NM_001407729.1:c.1536del NP_001394658.1:p.Asp513fs frameshift NM_001407730.1:c.1536del NP_001394659.1:p.Asp513fs frameshift NM_001407731.1:c.1536del NP_001394660.1:p.Asp513fs frameshift NM_001407732.1:c.1536del NP_001394661.1:p.Asp513fs frameshift NM_001407733.1:c.1536del NP_001394662.1:p.Asp513fs frameshift NM_001407734.1:c.1536del NP_001394663.1:p.Asp513fs frameshift NM_001407735.1:c.1536del NP_001394664.1:p.Asp513fs frameshift NM_001407736.1:c.1536del NP_001394665.1:p.Asp513fs frameshift NM_001407737.1:c.1536del NP_001394666.1:p.Asp513fs frameshift NM_001407738.1:c.1536del NP_001394667.1:p.Asp513fs frameshift NM_001407739.1:c.1536del NP_001394668.1:p.Asp513fs frameshift NM_001407740.1:c.1533del NP_001394669.1:p.Asp512fs frameshift NM_001407741.1:c.1533del NP_001394670.1:p.Asp512fs frameshift NM_001407742.1:c.1533del NP_001394671.1:p.Asp512fs frameshift NM_001407743.1:c.1533del NP_001394672.1:p.Asp512fs frameshift NM_001407744.1:c.1533del NP_001394673.1:p.Asp512fs frameshift NM_001407745.1:c.1533del NP_001394674.1:p.Asp512fs frameshift NM_001407746.1:c.1533del NP_001394675.1:p.Asp512fs frameshift NM_001407747.1:c.1533del NP_001394676.1:p.Asp512fs frameshift NM_001407748.1:c.1533del NP_001394677.1:p.Asp512fs frameshift NM_001407749.1:c.1533del NP_001394678.1:p.Asp512fs frameshift NM_001407750.1:c.1536del NP_001394679.1:p.Asp513fs frameshift NM_001407751.1:c.1536del NP_001394680.1:p.Asp513fs frameshift NM_001407752.1:c.1536del NP_001394681.1:p.Asp513fs frameshift NM_001407838.1:c.1533del NP_001394767.1:p.Asp512fs frameshift NM_001407839.1:c.1533del NP_001394768.1:p.Asp512fs frameshift NM_001407841.1:c.1533del NP_001394770.1:p.Asp512fs frameshift NM_001407842.1:c.1533del NP_001394771.1:p.Asp512fs frameshift NM_001407843.1:c.1533del NP_001394772.1:p.Asp512fs frameshift NM_001407844.1:c.1533del NP_001394773.1:p.Asp512fs frameshift NM_001407845.1:c.1533del NP_001394774.1:p.Asp512fs frameshift NM_001407846.1:c.1533del NP_001394775.1:p.Asp512fs frameshift NM_001407847.1:c.1533del NP_001394776.1:p.Asp512fs frameshift NM_001407848.1:c.1533del NP_001394777.1:p.Asp512fs frameshift NM_001407849.1:c.1533del NP_001394778.1:p.Asp512fs frameshift NM_001407850.1:c.1536del NP_001394779.1:p.Asp513fs frameshift NM_001407851.1:c.1536del NP_001394780.1:p.Asp513fs frameshift NM_001407852.1:c.1536del NP_001394781.1:p.Asp513fs frameshift NM_001407853.1:c.1464del NP_001394782.1:p.Asp489fs frameshift NM_001407854.1:c.1677del NP_001394783.1:p.Asp560fs frameshift NM_001407858.1:c.1677del NP_001394787.1:p.Asp560fs frameshift NM_001407859.1:c.1677del NP_001394788.1:p.Asp560fs frameshift NM_001407860.1:c.1674del NP_001394789.1:p.Asp559fs frameshift NM_001407861.1:c.1674del NP_001394790.1:p.Asp559fs frameshift NM_001407862.1:c.1476del NP_001394791.1:p.Asp493fs frameshift NM_001407863.1:c.1554del NP_001394792.1:p.Asp519fs frameshift NM_001407874.1:c.1473del NP_001394803.1:p.Asp492fs frameshift NM_001407875.1:c.1473del NP_001394804.1:p.Asp492fs frameshift NM_001407879.1:c.1467del NP_001394808.1:p.Asp490fs frameshift NM_001407881.1:c.1467del NP_001394810.1:p.Asp490fs frameshift NM_001407882.1:c.1467del NP_001394811.1:p.Asp490fs frameshift NM_001407884.1:c.1467del NP_001394813.1:p.Asp490fs frameshift NM_001407885.1:c.1467del NP_001394814.1:p.Asp490fs frameshift NM_001407886.1:c.1467del NP_001394815.1:p.Asp490fs frameshift NM_001407887.1:c.1467del NP_001394816.1:p.Asp490fs frameshift NM_001407889.1:c.1467del NP_001394818.1:p.Asp490fs frameshift NM_001407894.1:c.1464del NP_001394823.1:p.Asp489fs frameshift NM_001407895.1:c.1464del NP_001394824.1:p.Asp489fs frameshift NM_001407896.1:c.1464del NP_001394825.1:p.Asp489fs frameshift NM_001407897.1:c.1464del NP_001394826.1:p.Asp489fs frameshift NM_001407898.1:c.1464del NP_001394827.1:p.Asp489fs frameshift NM_001407899.1:c.1464del NP_001394828.1:p.Asp489fs frameshift NM_001407900.1:c.1467del NP_001394829.1:p.Asp490fs frameshift NM_001407902.1:c.1467del NP_001394831.1:p.Asp490fs frameshift NM_001407904.1:c.1467del NP_001394833.1:p.Asp490fs frameshift NM_001407906.1:c.1467del NP_001394835.1:p.Asp490fs frameshift NM_001407907.1:c.1467del NP_001394836.1:p.Asp490fs frameshift NM_001407908.1:c.1467del NP_001394837.1:p.Asp490fs frameshift NM_001407909.1:c.1467del NP_001394838.1:p.Asp490fs frameshift NM_001407910.1:c.1467del NP_001394839.1:p.Asp490fs frameshift NM_001407915.1:c.1464del NP_001394844.1:p.Asp489fs frameshift NM_001407916.1:c.1464del NP_001394845.1:p.Asp489fs frameshift NM_001407917.1:c.1464del NP_001394846.1:p.Asp489fs frameshift NM_001407918.1:c.1464del NP_001394847.1:p.Asp489fs frameshift NM_001407919.1:c.1554del NP_001394848.1:p.Asp519fs frameshift NM_001407920.1:c.1413del NP_001394849.1:p.Asp472fs frameshift NM_001407921.1:c.1413del NP_001394850.1:p.Asp472fs frameshift NM_001407922.1:c.1413del NP_001394851.1:p.Asp472fs frameshift NM_001407923.1:c.1413del NP_001394852.1:p.Asp472fs frameshift NM_001407924.1:c.1413del NP_001394853.1:p.Asp472fs frameshift NM_001407925.1:c.1413del NP_001394854.1:p.Asp472fs frameshift NM_001407926.1:c.1413del NP_001394855.1:p.Asp472fs frameshift NM_001407927.1:c.1413del NP_001394856.1:p.Asp472fs frameshift NM_001407928.1:c.1413del NP_001394857.1:p.Asp472fs frameshift NM_001407929.1:c.1413del NP_001394858.1:p.Asp472fs frameshift NM_001407930.1:c.1410del NP_001394859.1:p.Asp471fs frameshift NM_001407931.1:c.1410del NP_001394860.1:p.Asp471fs frameshift NM_001407932.1:c.1410del NP_001394861.1:p.Asp471fs frameshift NM_001407933.1:c.1413del NP_001394862.1:p.Asp472fs frameshift NM_001407934.1:c.1410del NP_001394863.1:p.Asp471fs frameshift NM_001407935.1:c.1413del NP_001394864.1:p.Asp472fs frameshift NM_001407936.1:c.1410del NP_001394865.1:p.Asp471fs frameshift NM_001407937.1:c.1554del NP_001394866.1:p.Asp519fs frameshift NM_001407938.1:c.1554del NP_001394867.1:p.Asp519fs frameshift NM_001407939.1:c.1554del NP_001394868.1:p.Asp519fs frameshift NM_001407940.1:c.1551del NP_001394869.1:p.Asp518fs frameshift NM_001407941.1:c.1551del NP_001394870.1:p.Asp518fs frameshift NM_001407942.1:c.1536del NP_001394871.1:p.Asp513fs frameshift NM_001407943.1:c.1533del NP_001394872.1:p.Asp512fs frameshift NM_001407944.1:c.1536del NP_001394873.1:p.Asp513fs frameshift NM_001407945.1:c.1536del NP_001394874.1:p.Asp513fs frameshift NM_001407946.1:c.1344del NP_001394875.1:p.Asp449fs frameshift NM_001407947.1:c.1344del NP_001394876.1:p.Asp449fs frameshift NM_001407948.1:c.1344del NP_001394877.1:p.Asp449fs frameshift NM_001407949.1:c.1344del NP_001394878.1:p.Asp449fs frameshift NM_001407950.1:c.1344del NP_001394879.1:p.Asp449fs frameshift NM_001407951.1:c.1344del NP_001394880.1:p.Asp449fs frameshift NM_001407952.1:c.1344del NP_001394881.1:p.Asp449fs frameshift NM_001407953.1:c.1344del NP_001394882.1:p.Asp449fs frameshift NM_001407954.1:c.1341del NP_001394883.1:p.Asp448fs frameshift NM_001407955.1:c.1341del NP_001394884.1:p.Asp448fs frameshift NM_001407956.1:c.1341del NP_001394885.1:p.Asp448fs frameshift NM_001407957.1:c.1344del NP_001394886.1:p.Asp449fs frameshift NM_001407958.1:c.1341del NP_001394887.1:p.Asp448fs frameshift NM_001407959.1:c.1296del NP_001394888.1:p.Asp433fs frameshift NM_001407960.1:c.1296del NP_001394889.1:p.Asp433fs frameshift NM_001407962.1:c.1293del NP_001394891.1:p.Asp432fs frameshift NM_001407963.1:c.1296del NP_001394892.1:p.Asp433fs frameshift NM_001407964.1:c.1533del NP_001394893.1:p.Asp512fs frameshift NM_001407965.1:c.1173del NP_001394894.1:p.Asp392fs frameshift NM_001407966.1:c.789del NP_001394895.1:p.Asp264fs frameshift NM_001407967.1:c.789del NP_001394896.1:p.Asp264fs frameshift NM_001407968.1:c.787+890del intron variant NM_001407969.1:c.787+890del intron variant NM_001407970.1:c.787+890del intron variant NM_001407971.1:c.787+890del intron variant NM_001407972.1:c.784+890del intron variant NM_001407973.1:c.787+890del intron variant NM_001407974.1:c.787+890del intron variant NM_001407975.1:c.787+890del intron variant NM_001407976.1:c.787+890del intron variant NM_001407977.1:c.787+890del intron variant NM_001407978.1:c.787+890del intron variant NM_001407979.1:c.787+890del intron variant NM_001407980.1:c.787+890del intron variant NM_001407981.1:c.787+890del intron variant NM_001407982.1:c.787+890del intron variant NM_001407983.1:c.787+890del intron variant NM_001407984.1:c.784+890del intron variant NM_001407985.1:c.784+890del intron variant NM_001407986.1:c.784+890del intron variant NM_001407990.1:c.787+890del intron variant NM_001407991.1:c.784+890del intron variant NM_001407992.1:c.784+890del intron variant NM_001407993.1:c.787+890del intron variant NM_001408392.1:c.784+890del intron variant NM_001408396.1:c.784+890del intron variant NM_001408397.1:c.784+890del intron variant NM_001408398.1:c.784+890del intron variant NM_001408399.1:c.784+890del intron variant NM_001408400.1:c.784+890del intron variant NM_001408401.1:c.784+890del intron variant NM_001408402.1:c.784+890del intron variant NM_001408403.1:c.787+890del intron variant NM_001408404.1:c.787+890del intron variant NM_001408406.1:c.790+887del intron variant NM_001408407.1:c.784+890del intron variant NM_001408408.1:c.778+890del intron variant NM_001408409.1:c.709+890del intron variant NM_001408410.1:c.646+890del intron variant NM_001408411.1:c.709+890del intron variant NM_001408412.1:c.709+890del intron variant NM_001408413.1:c.706+890del intron variant NM_001408414.1:c.709+890del intron variant NM_001408415.1:c.709+890del intron variant NM_001408416.1:c.706+890del intron variant NM_001408418.1:c.670+1992del intron variant NM_001408419.1:c.670+1992del intron variant NM_001408420.1:c.670+1992del intron variant NM_001408421.1:c.667+1992del intron variant NM_001408422.1:c.670+1992del intron variant NM_001408423.1:c.670+1992del intron variant NM_001408424.1:c.667+1992del intron variant NM_001408425.1:c.664+890del intron variant NM_001408426.1:c.664+890del intron variant NM_001408427.1:c.664+890del intron variant NM_001408428.1:c.664+890del intron variant NM_001408429.1:c.664+890del intron variant NM_001408430.1:c.664+890del intron variant NM_001408431.1:c.667+1992del intron variant NM_001408432.1:c.661+890del intron variant NM_001408433.1:c.661+890del intron variant NM_001408434.1:c.661+890del intron variant NM_001408435.1:c.661+890del intron variant NM_001408436.1:c.664+890del intron variant NM_001408437.1:c.664+890del intron variant NM_001408438.1:c.664+890del intron variant NM_001408439.1:c.664+890del intron variant NM_001408440.1:c.664+890del intron variant NM_001408441.1:c.664+890del intron variant NM_001408442.1:c.664+890del intron variant NM_001408443.1:c.664+890del intron variant NM_001408444.1:c.664+890del intron variant NM_001408445.1:c.661+890del intron variant NM_001408446.1:c.661+890del intron variant NM_001408447.1:c.661+890del intron variant NM_001408448.1:c.661+890del intron variant NM_001408450.1:c.661+890del intron variant NM_001408451.1:c.652+890del intron variant NM_001408452.1:c.646+890del intron variant NM_001408453.1:c.646+890del intron variant NM_001408454.1:c.646+890del intron variant NM_001408455.1:c.646+890del intron variant NM_001408456.1:c.646+890del intron variant NM_001408457.1:c.646+890del intron variant NM_001408458.1:c.646+890del intron variant NM_001408459.1:c.646+890del intron variant NM_001408460.1:c.646+890del intron variant NM_001408461.1:c.646+890del intron variant NM_001408462.1:c.643+890del intron variant NM_001408463.1:c.643+890del intron variant NM_001408464.1:c.643+890del intron variant NM_001408465.1:c.643+890del intron variant NM_001408466.1:c.646+890del intron variant NM_001408467.1:c.646+890del intron variant NM_001408468.1:c.643+890del intron variant NM_001408469.1:c.646+890del intron variant NM_001408470.1:c.643+890del intron variant NM_001408472.1:c.787+890del intron variant NM_001408473.1:c.784+890del intron variant NM_001408474.1:c.586+890del intron variant NM_001408475.1:c.583+890del intron variant NM_001408476.1:c.586+890del intron variant NM_001408478.1:c.577+890del intron variant NM_001408479.1:c.577+890del intron variant NM_001408480.1:c.577+890del intron variant NM_001408481.1:c.577+890del intron variant NM_001408482.1:c.577+890del intron variant NM_001408483.1:c.577+890del intron variant NM_001408484.1:c.577+890del intron variant NM_001408485.1:c.577+890del intron variant NM_001408489.1:c.577+890del intron variant NM_001408490.1:c.574+890del intron variant NM_001408491.1:c.574+890del intron variant NM_001408492.1:c.577+890del intron variant NM_001408493.1:c.574+890del intron variant NM_001408494.1:c.548-2822del intron variant NM_001408495.1:c.545-2822del intron variant NM_001408496.1:c.523+890del intron variant NM_001408497.1:c.523+890del intron variant NM_001408498.1:c.523+890del intron variant NM_001408499.1:c.523+890del intron variant NM_001408500.1:c.523+890del intron variant NM_001408501.1:c.523+890del intron variant NM_001408502.1:c.454+890del intron variant NM_001408503.1:c.520+890del intron variant NM_001408504.1:c.520+890del intron variant NM_001408505.1:c.520+890del intron variant NM_001408506.1:c.460+1992del intron variant NM_001408507.1:c.460+1992del intron variant NM_001408508.1:c.451+890del intron variant NM_001408509.1:c.451+890del intron variant NM_001408510.1:c.406+890del intron variant NM_001408511.1:c.404-2822del intron variant NM_001408512.1:c.283+890del intron variant NM_001408513.1:c.577+890del intron variant NM_001408514.1:c.577+890del intron variant NM_007297.4:c.1536del NP_009228.2:p.Asp513fs frameshift NM_007298.4:c.787+890del intron variant NM_007299.4:c.787+890del intron variant NM_007300.4:c.1677del NP_009231.2:p.Asp560fs frameshift NR_027676.1:n.1813delT NC_000017.11:g.43093854del NC_000017.10:g.41245871del NG_005905.2:g.124130del LRG_292:g.124130del LRG_292t1:c.1677del LRG_292p1:p.Asp560Ilefs - Protein change
- D513fs, D560fs, D432fs, D448fs, D449fs, D512fs, D519fs, D471fs, D490fs, D493fs, D264fs, D392fs, D433fs, D472fs, D489fs, D518fs, D534fs, D557fs, D559fs, D492fs, D533fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093853:A:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
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. |
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Pathogenic (1) |
criteria provided, single submitter
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Aug 23, 2022 | RCV001384105.8 |
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
(Aug 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001583490.5
First in ClinVar: May 10, 2021 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Asp560Ilefs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Asp560Ilefs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071595). For these reasons, this variant has been classified as Pathogenic. (less)
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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 |
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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs2154430698 ...
HelpRecord last updated Sep 29, 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.