ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.799dup (p.Ser267fs)
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.799dup (p.Ser267fs)
Variation ID: 55709 Accession: VCV000055709.17
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094731-43094732 (GRCh38) [ NCBI UCSC ] 17: 41246748-41246749 (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 14, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.799dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser267fs frameshift NM_001407571.1:c.586dup NP_001394500.1:p.Ser196fs frameshift NM_001407581.1:c.799dup NP_001394510.1:p.Ser267fs frameshift NM_001407582.1:c.799dup NP_001394511.1:p.Ser267fs frameshift NM_001407583.1:c.799dup NP_001394512.1:p.Ser267fs frameshift NM_001407585.1:c.799dup NP_001394514.1:p.Ser267fs frameshift NM_001407587.1:c.796dup NP_001394516.1:p.Ser266fs frameshift NM_001407590.1:c.796dup NP_001394519.1:p.Ser266fs frameshift NM_001407591.1:c.796dup NP_001394520.1:p.Ser266fs frameshift NM_001407593.1:c.799dup NP_001394522.1:p.Ser267fs frameshift NM_001407594.1:c.799dup NP_001394523.1:p.Ser267fs frameshift NM_001407596.1:c.799dup NP_001394525.1:p.Ser267fs frameshift NM_001407597.1:c.799dup NP_001394526.1:p.Ser267fs frameshift NM_001407598.1:c.799dup NP_001394527.1:p.Ser267fs frameshift NM_001407602.1:c.799dup NP_001394531.1:p.Ser267fs frameshift NM_001407603.1:c.799dup NP_001394532.1:p.Ser267fs frameshift NM_001407605.1:c.799dup NP_001394534.1:p.Ser267fs frameshift NM_001407610.1:c.796dup NP_001394539.1:p.Ser266fs frameshift NM_001407611.1:c.796dup NP_001394540.1:p.Ser266fs frameshift NM_001407612.1:c.796dup NP_001394541.1:p.Ser266fs frameshift NM_001407613.1:c.796dup NP_001394542.1:p.Ser266fs frameshift NM_001407614.1:c.796dup NP_001394543.1:p.Ser266fs frameshift NM_001407615.1:c.796dup NP_001394544.1:p.Ser266fs frameshift NM_001407616.1:c.799dup NP_001394545.1:p.Ser267fs frameshift NM_001407617.1:c.799dup NP_001394546.1:p.Ser267fs frameshift NM_001407618.1:c.799dup NP_001394547.1:p.Ser267fs frameshift NM_001407619.1:c.799dup NP_001394548.1:p.Ser267fs frameshift NM_001407620.1:c.799dup NP_001394549.1:p.Ser267fs frameshift NM_001407621.1:c.799dup NP_001394550.1:p.Ser267fs frameshift NM_001407622.1:c.799dup NP_001394551.1:p.Ser267fs frameshift NM_001407623.1:c.799dup NP_001394552.1:p.Ser267fs frameshift NM_001407624.1:c.799dup NP_001394553.1:p.Ser267fs frameshift NM_001407625.1:c.799dup NP_001394554.1:p.Ser267fs frameshift NM_001407626.1:c.799dup NP_001394555.1:p.Ser267fs frameshift NM_001407627.1:c.796dup NP_001394556.1:p.Ser266fs frameshift NM_001407628.1:c.796dup NP_001394557.1:p.Ser266fs frameshift NM_001407629.1:c.796dup NP_001394558.1:p.Ser266fs frameshift NM_001407630.1:c.796dup NP_001394559.1:p.Ser266fs frameshift NM_001407631.1:c.796dup NP_001394560.1:p.Ser266fs frameshift NM_001407632.1:c.796dup NP_001394561.1:p.Ser266fs frameshift NM_001407633.1:c.796dup NP_001394562.1:p.Ser266fs frameshift NM_001407634.1:c.796dup NP_001394563.1:p.Ser266fs frameshift NM_001407635.1:c.796dup NP_001394564.1:p.Ser266fs frameshift NM_001407636.1:c.796dup NP_001394565.1:p.Ser266fs frameshift NM_001407637.1:c.796dup NP_001394566.1:p.Ser266fs frameshift NM_001407638.1:c.796dup NP_001394567.1:p.Ser266fs frameshift NM_001407639.1:c.799dup NP_001394568.1:p.Ser267fs frameshift NM_001407640.1:c.799dup NP_001394569.1:p.Ser267fs frameshift NM_001407641.1:c.799dup NP_001394570.1:p.Ser267fs frameshift NM_001407642.1:c.799dup NP_001394571.1:p.Ser267fs frameshift NM_001407644.1:c.796dup NP_001394573.1:p.Ser266fs frameshift NM_001407645.1:c.796dup NP_001394574.1:p.Ser266fs frameshift NM_001407646.1:c.790dup NP_001394575.1:p.Ser264fs frameshift NM_001407647.1:c.790dup NP_001394576.1:p.Ser264fs frameshift NM_001407648.1:c.676dup NP_001394577.1:p.Ser226fs frameshift NM_001407649.1:c.673dup NP_001394578.1:p.Ser225fs frameshift NM_001407652.1:c.799dup NP_001394581.1:p.Ser267fs frameshift NM_001407653.1:c.721dup NP_001394582.1:p.Ser241fs frameshift NM_001407654.1:c.721dup NP_001394583.1:p.Ser241fs frameshift NM_001407655.1:c.721dup NP_001394584.1:p.Ser241fs frameshift NM_001407656.1:c.721dup NP_001394585.1:p.Ser241fs frameshift NM_001407657.1:c.721dup NP_001394586.1:p.Ser241fs frameshift NM_001407658.1:c.721dup NP_001394587.1:p.Ser241fs frameshift NM_001407659.1:c.718dup NP_001394588.1:p.Ser240fs frameshift NM_001407660.1:c.718dup NP_001394589.1:p.Ser240fs frameshift NM_001407661.1:c.718dup NP_001394590.1:p.Ser240fs frameshift NM_001407662.1:c.718dup NP_001394591.1:p.Ser240fs frameshift NM_001407663.1:c.721dup NP_001394592.1:p.Ser241fs frameshift NM_001407664.1:c.676dup NP_001394593.1:p.Ser226fs frameshift NM_001407665.1:c.676dup NP_001394594.1:p.Ser226fs frameshift NM_001407666.1:c.676dup NP_001394595.1:p.Ser226fs frameshift NM_001407667.1:c.676dup NP_001394596.1:p.Ser226fs frameshift NM_001407668.1:c.676dup NP_001394597.1:p.Ser226fs frameshift NM_001407669.1:c.676dup NP_001394598.1:p.Ser226fs frameshift NM_001407670.1:c.673dup NP_001394599.1:p.Ser225fs frameshift NM_001407671.1:c.673dup NP_001394600.1:p.Ser225fs frameshift NM_001407672.1:c.673dup NP_001394601.1:p.Ser225fs frameshift NM_001407673.1:c.673dup NP_001394602.1:p.Ser225fs frameshift NM_001407674.1:c.676dup NP_001394603.1:p.Ser226fs frameshift NM_001407675.1:c.676dup NP_001394604.1:p.Ser226fs frameshift NM_001407676.1:c.676dup NP_001394605.1:p.Ser226fs frameshift NM_001407677.1:c.676dup NP_001394606.1:p.Ser226fs frameshift NM_001407678.1:c.676dup NP_001394607.1:p.Ser226fs frameshift NM_001407679.1:c.676dup NP_001394608.1:p.Ser226fs frameshift NM_001407680.1:c.676dup NP_001394609.1:p.Ser226fs frameshift NM_001407681.1:c.676dup NP_001394610.1:p.Ser226fs frameshift NM_001407682.1:c.676dup NP_001394611.1:p.Ser226fs frameshift NM_001407683.1:c.676dup NP_001394612.1:p.Ser226fs frameshift NM_001407684.1:c.799dup NP_001394613.1:p.Ser267fs frameshift NM_001407685.1:c.673dup NP_001394614.1:p.Ser225fs frameshift NM_001407686.1:c.673dup NP_001394615.1:p.Ser225fs frameshift NM_001407687.1:c.673dup NP_001394616.1:p.Ser225fs frameshift NM_001407688.1:c.673dup NP_001394617.1:p.Ser225fs frameshift NM_001407689.1:c.673dup NP_001394618.1:p.Ser225fs frameshift NM_001407690.1:c.673dup NP_001394619.1:p.Ser225fs frameshift NM_001407691.1:c.673dup NP_001394620.1:p.Ser225fs frameshift NM_001407692.1:c.658dup NP_001394621.1:p.Ser220fs frameshift NM_001407694.1:c.658dup NP_001394623.1:p.Ser220fs frameshift NM_001407695.1:c.658dup NP_001394624.1:p.Ser220fs frameshift NM_001407696.1:c.658dup NP_001394625.1:p.Ser220fs frameshift NM_001407697.1:c.658dup NP_001394626.1:p.Ser220fs frameshift NM_001407698.1:c.658dup NP_001394627.1:p.Ser220fs frameshift NM_001407724.1:c.658dup NP_001394653.1:p.Ser220fs frameshift NM_001407725.1:c.658dup NP_001394654.1:p.Ser220fs frameshift NM_001407726.1:c.658dup NP_001394655.1:p.Ser220fs frameshift NM_001407727.1:c.658dup NP_001394656.1:p.Ser220fs frameshift NM_001407728.1:c.658dup NP_001394657.1:p.Ser220fs frameshift NM_001407729.1:c.658dup NP_001394658.1:p.Ser220fs frameshift NM_001407730.1:c.658dup NP_001394659.1:p.Ser220fs frameshift NM_001407731.1:c.658dup NP_001394660.1:p.Ser220fs frameshift NM_001407732.1:c.658dup NP_001394661.1:p.Ser220fs frameshift NM_001407733.1:c.658dup NP_001394662.1:p.Ser220fs frameshift NM_001407734.1:c.658dup NP_001394663.1:p.Ser220fs frameshift NM_001407735.1:c.658dup NP_001394664.1:p.Ser220fs frameshift NM_001407736.1:c.658dup NP_001394665.1:p.Ser220fs frameshift NM_001407737.1:c.658dup NP_001394666.1:p.Ser220fs frameshift NM_001407738.1:c.658dup NP_001394667.1:p.Ser220fs frameshift NM_001407739.1:c.658dup NP_001394668.1:p.Ser220fs frameshift NM_001407740.1:c.655dup NP_001394669.1:p.Ser219fs frameshift NM_001407741.1:c.655dup NP_001394670.1:p.Ser219fs frameshift NM_001407742.1:c.655dup NP_001394671.1:p.Ser219fs frameshift NM_001407743.1:c.655dup NP_001394672.1:p.Ser219fs frameshift NM_001407744.1:c.655dup NP_001394673.1:p.Ser219fs frameshift NM_001407745.1:c.655dup NP_001394674.1:p.Ser219fs frameshift NM_001407746.1:c.655dup NP_001394675.1:p.Ser219fs frameshift NM_001407747.1:c.655dup NP_001394676.1:p.Ser219fs frameshift NM_001407748.1:c.655dup NP_001394677.1:p.Ser219fs frameshift NM_001407749.1:c.655dup NP_001394678.1:p.Ser219fs frameshift NM_001407750.1:c.658dup NP_001394679.1:p.Ser220fs frameshift NM_001407751.1:c.658dup NP_001394680.1:p.Ser220fs frameshift NM_001407752.1:c.658dup NP_001394681.1:p.Ser220fs frameshift NM_001407838.1:c.655dup NP_001394767.1:p.Ser219fs frameshift NM_001407839.1:c.655dup NP_001394768.1:p.Ser219fs frameshift NM_001407841.1:c.655dup NP_001394770.1:p.Ser219fs frameshift NM_001407842.1:c.655dup NP_001394771.1:p.Ser219fs frameshift NM_001407843.1:c.655dup NP_001394772.1:p.Ser219fs frameshift NM_001407844.1:c.655dup NP_001394773.1:p.Ser219fs frameshift NM_001407845.1:c.655dup NP_001394774.1:p.Ser219fs frameshift NM_001407846.1:c.655dup NP_001394775.1:p.Ser219fs frameshift NM_001407847.1:c.655dup NP_001394776.1:p.Ser219fs frameshift NM_001407848.1:c.655dup NP_001394777.1:p.Ser219fs frameshift NM_001407849.1:c.655dup NP_001394778.1:p.Ser219fs frameshift NM_001407850.1:c.658dup NP_001394779.1:p.Ser220fs frameshift NM_001407851.1:c.658dup NP_001394780.1:p.Ser220fs frameshift NM_001407852.1:c.658dup NP_001394781.1:p.Ser220fs frameshift NM_001407853.1:c.586dup NP_001394782.1:p.Ser196fs frameshift NM_001407854.1:c.799dup NP_001394783.1:p.Ser267fs frameshift NM_001407858.1:c.799dup NP_001394787.1:p.Ser267fs frameshift NM_001407859.1:c.799dup NP_001394788.1:p.Ser267fs frameshift NM_001407860.1:c.796dup NP_001394789.1:p.Ser266fs frameshift NM_001407861.1:c.796dup NP_001394790.1:p.Ser266fs frameshift NM_001407862.1:c.598dup NP_001394791.1:p.Ser200fs frameshift NM_001407863.1:c.676dup NP_001394792.1:p.Ser226fs frameshift NM_001407874.1:c.595dup NP_001394803.1:p.Ser199fs frameshift NM_001407875.1:c.595dup NP_001394804.1:p.Ser199fs frameshift NM_001407879.1:c.589dup NP_001394808.1:p.Ser197fs frameshift NM_001407881.1:c.589dup NP_001394810.1:p.Ser197fs frameshift NM_001407882.1:c.589dup NP_001394811.1:p.Ser197fs frameshift NM_001407884.1:c.589dup NP_001394813.1:p.Ser197fs frameshift NM_001407885.1:c.589dup NP_001394814.1:p.Ser197fs frameshift NM_001407886.1:c.589dup NP_001394815.1:p.Ser197fs frameshift NM_001407887.1:c.589dup NP_001394816.1:p.Ser197fs frameshift NM_001407889.1:c.589dup NP_001394818.1:p.Ser197fs frameshift NM_001407894.1:c.586dup NP_001394823.1:p.Ser196fs frameshift NM_001407895.1:c.586dup NP_001394824.1:p.Ser196fs frameshift NM_001407896.1:c.586dup NP_001394825.1:p.Ser196fs frameshift NM_001407897.1:c.586dup NP_001394826.1:p.Ser196fs frameshift NM_001407898.1:c.586dup NP_001394827.1:p.Ser196fs frameshift NM_001407899.1:c.586dup NP_001394828.1:p.Ser196fs frameshift NM_001407900.1:c.589dup NP_001394829.1:p.Ser197fs frameshift NM_001407902.1:c.589dup NP_001394831.1:p.Ser197fs frameshift NM_001407904.1:c.589dup NP_001394833.1:p.Ser197fs frameshift NM_001407906.1:c.589dup NP_001394835.1:p.Ser197fs frameshift NM_001407907.1:c.589dup NP_001394836.1:p.Ser197fs frameshift NM_001407908.1:c.589dup NP_001394837.1:p.Ser197fs frameshift NM_001407909.1:c.589dup NP_001394838.1:p.Ser197fs frameshift NM_001407910.1:c.589dup NP_001394839.1:p.Ser197fs frameshift NM_001407915.1:c.586dup NP_001394844.1:p.Ser196fs frameshift NM_001407916.1:c.586dup NP_001394845.1:p.Ser196fs frameshift NM_001407917.1:c.586dup NP_001394846.1:p.Ser196fs frameshift NM_001407918.1:c.586dup NP_001394847.1:p.Ser196fs frameshift NM_001407919.1:c.676dup NP_001394848.1:p.Ser226fs frameshift NM_001407920.1:c.535dup NP_001394849.1:p.Ser179fs frameshift NM_001407921.1:c.535dup NP_001394850.1:p.Ser179fs frameshift NM_001407922.1:c.535dup NP_001394851.1:p.Ser179fs frameshift NM_001407923.1:c.535dup NP_001394852.1:p.Ser179fs frameshift NM_001407924.1:c.535dup NP_001394853.1:p.Ser179fs frameshift NM_001407925.1:c.535dup NP_001394854.1:p.Ser179fs frameshift NM_001407926.1:c.535dup NP_001394855.1:p.Ser179fs frameshift NM_001407927.1:c.535dup NP_001394856.1:p.Ser179fs frameshift NM_001407928.1:c.535dup NP_001394857.1:p.Ser179fs frameshift NM_001407929.1:c.535dup NP_001394858.1:p.Ser179fs frameshift NM_001407930.1:c.532dup NP_001394859.1:p.Ser178fs frameshift NM_001407931.1:c.532dup NP_001394860.1:p.Ser178fs frameshift NM_001407932.1:c.532dup NP_001394861.1:p.Ser178fs frameshift NM_001407933.1:c.535dup NP_001394862.1:p.Ser179fs frameshift NM_001407934.1:c.532dup NP_001394863.1:p.Ser178fs frameshift NM_001407935.1:c.535dup NP_001394864.1:p.Ser179fs frameshift NM_001407936.1:c.532dup NP_001394865.1:p.Ser178fs frameshift NM_001407937.1:c.676dup NP_001394866.1:p.Ser226fs frameshift NM_001407938.1:c.676dup NP_001394867.1:p.Ser226fs frameshift NM_001407939.1:c.676dup NP_001394868.1:p.Ser226fs frameshift NM_001407940.1:c.673dup NP_001394869.1:p.Ser225fs frameshift NM_001407941.1:c.673dup NP_001394870.1:p.Ser225fs frameshift NM_001407942.1:c.658dup NP_001394871.1:p.Ser220fs frameshift NM_001407943.1:c.655dup NP_001394872.1:p.Ser219fs frameshift NM_001407944.1:c.658dup NP_001394873.1:p.Ser220fs frameshift NM_001407945.1:c.658dup NP_001394874.1:p.Ser220fs frameshift NM_001407946.1:c.466dup NP_001394875.1:p.Ser156fs frameshift NM_001407947.1:c.466dup NP_001394876.1:p.Ser156fs frameshift NM_001407948.1:c.466dup NP_001394877.1:p.Ser156fs frameshift NM_001407949.1:c.466dup NP_001394878.1:p.Ser156fs frameshift NM_001407950.1:c.466dup NP_001394879.1:p.Ser156fs frameshift NM_001407951.1:c.466dup NP_001394880.1:p.Ser156fs frameshift NM_001407952.1:c.466dup NP_001394881.1:p.Ser156fs frameshift NM_001407953.1:c.466dup NP_001394882.1:p.Ser156fs frameshift NM_001407954.1:c.463dup NP_001394883.1:p.Ser155fs frameshift NM_001407955.1:c.463dup NP_001394884.1:p.Ser155fs frameshift NM_001407956.1:c.463dup NP_001394885.1:p.Ser155fs frameshift NM_001407957.1:c.466dup NP_001394886.1:p.Ser156fs frameshift NM_001407958.1:c.463dup NP_001394887.1:p.Ser155fs frameshift NM_001407959.1:c.418dup NP_001394888.1:p.Ser140fs frameshift NM_001407960.1:c.418dup NP_001394889.1:p.Ser140fs frameshift NM_001407962.1:c.415dup NP_001394891.1:p.Ser139fs frameshift NM_001407963.1:c.418dup NP_001394892.1:p.Ser140fs frameshift NM_001407964.1:c.655dup NP_001394893.1:p.Ser219fs frameshift NM_001407965.1:c.295dup NP_001394894.1:p.Ser99fs frameshift NM_001407966.1:c.-90dup 5 prime UTR NM_001407967.1:c.-90dup 5 prime UTR NM_001407968.1:c.787+12dup intron variant NM_001407969.1:c.787+12dup intron variant NM_001407970.1:c.787+12dup intron variant NM_001407971.1:c.787+12dup intron variant NM_001407972.1:c.784+12dup intron variant NM_001407973.1:c.787+12dup intron variant NM_001407974.1:c.787+12dup intron variant NM_001407975.1:c.787+12dup intron variant NM_001407976.1:c.787+12dup intron variant NM_001407977.1:c.787+12dup intron variant NM_001407978.1:c.787+12dup intron variant NM_001407979.1:c.787+12dup intron variant NM_001407980.1:c.787+12dup intron variant NM_001407981.1:c.787+12dup intron variant NM_001407982.1:c.787+12dup intron variant NM_001407983.1:c.787+12dup intron variant NM_001407984.1:c.784+12dup intron variant NM_001407985.1:c.784+12dup intron variant NM_001407986.1:c.784+12dup intron variant NM_001407990.1:c.787+12dup intron variant NM_001407991.1:c.784+12dup intron variant NM_001407992.1:c.784+12dup intron variant NM_001407993.1:c.787+12dup intron variant NM_001408392.1:c.784+12dup intron variant NM_001408396.1:c.784+12dup intron variant NM_001408397.1:c.784+12dup intron variant NM_001408398.1:c.784+12dup intron variant NM_001408399.1:c.784+12dup intron variant NM_001408400.1:c.784+12dup intron variant NM_001408401.1:c.784+12dup intron variant NM_001408402.1:c.784+12dup intron variant NM_001408403.1:c.787+12dup intron variant NM_001408404.1:c.787+12dup intron variant NM_001408406.1:c.790+9dup intron variant NM_001408407.1:c.784+12dup intron variant NM_001408408.1:c.778+12dup intron variant NM_001408409.1:c.709+12dup intron variant NM_001408410.1:c.646+12dup intron variant NM_001408411.1:c.709+12dup intron variant NM_001408412.1:c.709+12dup intron variant NM_001408413.1:c.706+12dup intron variant NM_001408414.1:c.709+12dup intron variant NM_001408415.1:c.709+12dup intron variant NM_001408416.1:c.706+12dup intron variant NM_001408418.1:c.670+1114dup intron variant NM_001408419.1:c.670+1114dup intron variant NM_001408420.1:c.670+1114dup intron variant NM_001408421.1:c.667+1114dup intron variant NM_001408422.1:c.670+1114dup intron variant NM_001408423.1:c.670+1114dup intron variant NM_001408424.1:c.667+1114dup intron variant NM_001408425.1:c.664+12dup intron variant NM_001408426.1:c.664+12dup intron variant NM_001408427.1:c.664+12dup intron variant NM_001408428.1:c.664+12dup intron variant NM_001408429.1:c.664+12dup intron variant NM_001408430.1:c.664+12dup intron variant NM_001408431.1:c.667+1114dup intron variant NM_001408432.1:c.661+12dup intron variant NM_001408433.1:c.661+12dup intron variant NM_001408434.1:c.661+12dup intron variant NM_001408435.1:c.661+12dup intron variant NM_001408436.1:c.664+12dup intron variant NM_001408437.1:c.664+12dup intron variant NM_001408438.1:c.664+12dup intron variant NM_001408439.1:c.664+12dup intron variant NM_001408440.1:c.664+12dup intron variant NM_001408441.1:c.664+12dup intron variant NM_001408442.1:c.664+12dup intron variant NM_001408443.1:c.664+12dup intron variant NM_001408444.1:c.664+12dup intron variant NM_001408445.1:c.661+12dup intron variant NM_001408446.1:c.661+12dup intron variant NM_001408447.1:c.661+12dup intron variant NM_001408448.1:c.661+12dup intron variant NM_001408450.1:c.661+12dup intron variant NM_001408451.1:c.652+12dup intron variant NM_001408452.1:c.646+12dup intron variant NM_001408453.1:c.646+12dup intron variant NM_001408454.1:c.646+12dup intron variant NM_001408455.1:c.646+12dup intron variant NM_001408456.1:c.646+12dup intron variant NM_001408457.1:c.646+12dup intron variant NM_001408458.1:c.646+12dup intron variant NM_001408459.1:c.646+12dup intron variant NM_001408460.1:c.646+12dup intron variant NM_001408461.1:c.646+12dup intron variant NM_001408462.1:c.643+12dup intron variant NM_001408463.1:c.643+12dup intron variant NM_001408464.1:c.643+12dup intron variant NM_001408465.1:c.643+12dup intron variant NM_001408466.1:c.646+12dup intron variant NM_001408467.1:c.646+12dup intron variant NM_001408468.1:c.643+12dup intron variant NM_001408469.1:c.646+12dup intron variant NM_001408470.1:c.643+12dup intron variant NM_001408472.1:c.787+12dup intron variant NM_001408473.1:c.784+12dup intron variant NM_001408474.1:c.586+12dup intron variant NM_001408475.1:c.583+12dup intron variant NM_001408476.1:c.586+12dup intron variant NM_001408478.1:c.577+12dup intron variant NM_001408479.1:c.577+12dup intron variant NM_001408480.1:c.577+12dup intron variant NM_001408481.1:c.577+12dup intron variant NM_001408482.1:c.577+12dup intron variant NM_001408483.1:c.577+12dup intron variant NM_001408484.1:c.577+12dup intron variant NM_001408485.1:c.577+12dup intron variant NM_001408489.1:c.577+12dup intron variant NM_001408490.1:c.574+12dup intron variant NM_001408491.1:c.574+12dup intron variant NM_001408492.1:c.577+12dup intron variant NM_001408493.1:c.574+12dup intron variant NM_001408494.1:c.548-3700dup intron variant NM_001408495.1:c.545-3700dup intron variant NM_001408496.1:c.523+12dup intron variant NM_001408497.1:c.523+12dup intron variant NM_001408498.1:c.523+12dup intron variant NM_001408499.1:c.523+12dup intron variant NM_001408500.1:c.523+12dup intron variant NM_001408501.1:c.523+12dup intron variant NM_001408502.1:c.454+12dup intron variant NM_001408503.1:c.520+12dup intron variant NM_001408504.1:c.520+12dup intron variant NM_001408505.1:c.520+12dup intron variant NM_001408506.1:c.460+1114dup intron variant NM_001408507.1:c.460+1114dup intron variant NM_001408508.1:c.451+12dup intron variant NM_001408509.1:c.451+12dup intron variant NM_001408510.1:c.406+12dup intron variant NM_001408511.1:c.404-3700dup intron variant NM_001408512.1:c.283+12dup intron variant NM_001408513.1:c.577+12dup intron variant NM_001408514.1:c.577+12dup intron variant NM_007294.3:c.799dupT frameshift NM_007297.4:c.658dup NP_009228.2:p.Ser220fs frameshift NM_007298.4:c.787+12dup intron variant NM_007299.4:c.787+12dup intron variant NM_007300.4:c.799dup NP_009231.2:p.Ser267fs frameshift NR_027676.1:n.933dup NC_000017.11:g.43094734dup NC_000017.10:g.41246751dup NG_005905.2:g.123252dup LRG_292:g.123252dup LRG_292t1:c.797dup LRG_292p1:p.Ser267Phefs - Protein change
- S220fs, S267fs, S139fs, S219fs, S225fs, S264fs, S266fs, S179fs, S226fs, S99fs, S140fs, S196fs, S200fs, S240fs, S155fs, S156fs, S178fs, S197fs, S199fs, S241fs
- Other names
- 918insT
- Canonical SPDI
- NC_000017.11:43094731:AAA:AAAA
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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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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 |
12752 | - |
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 (2) |
reviewed by expert panel
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Oct 18, 2016 | RCV000257867.13 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 20, 2018 | RCV000985446.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 22, 2019 | RCV001203947.15 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 6, 2023 | RCV003298098.8 |
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
(Oct 18, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323912.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 20, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133646.3
First in ClinVar: Jan 05, 2020 Last updated: Jan 03, 2022 |
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one … (more)
The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data. (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326413.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Apr 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004004311.1
First in ClinVar: Jul 08, 2023 Last updated: Jul 08, 2023 |
Comment:
The c.799dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 799, causing a … (more)
The c.799dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 799, causing a translational frameshift with a predicted alternate stop codon (p.S267Ffs*20). This alteration was identified in 1 of 283 epithelial ovarian cancer families from the United Kingdom and the United States undergoing BRCA1/2 genetic testing (Ramus SJ et al. Hum Mutat, 2007 Dec;28:1207-15). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Sep 22, 2019)
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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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Invitae
Accession: SCV001375132.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in a family affected with ovarian and breast cancer (PMID: 17688236). ClinVar contains an entry for this variant (Variation ID: 55709). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser267Phefs*20) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (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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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
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 |
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. | Ramus SJ | Human mutation | 2007 | PMID: 17688236 |
Text-mined citations for rs80357724 ...
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.