ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2955del (p.Ile986fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.2955del (p.Ile986fs)
Variation ID: 54731 Accession: VCV000054731.7
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092576 (GRCh38) [ NCBI UCSC ] 17: 41244593 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Sep 27, 2014 May 1, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.2955del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile986fs frameshift NM_001407571.1:c.2742del NP_001394500.1:p.Ile915fs frameshift NM_001407581.1:c.2955del NP_001394510.1:p.Ile986fs frameshift NM_001407582.1:c.2955del NP_001394511.1:p.Ile986fs frameshift NM_001407583.1:c.2955del NP_001394512.1:p.Ile986fs frameshift NM_001407585.1:c.2955del NP_001394514.1:p.Ile986fs frameshift NM_001407587.1:c.2952del NP_001394516.1:p.Ile985fs frameshift NM_001407590.1:c.2952del NP_001394519.1:p.Ile985fs frameshift NM_001407591.1:c.2952del NP_001394520.1:p.Ile985fs frameshift NM_001407593.1:c.2955del NP_001394522.1:p.Ile986fs frameshift NM_001407594.1:c.2955del NP_001394523.1:p.Ile986fs frameshift NM_001407596.1:c.2955del NP_001394525.1:p.Ile986fs frameshift NM_001407597.1:c.2955del NP_001394526.1:p.Ile986fs frameshift NM_001407598.1:c.2955del NP_001394527.1:p.Ile986fs frameshift NM_001407602.1:c.2955del NP_001394531.1:p.Ile986fs frameshift NM_001407603.1:c.2955del NP_001394532.1:p.Ile986fs frameshift NM_001407605.1:c.2955del NP_001394534.1:p.Ile986fs frameshift NM_001407610.1:c.2952del NP_001394539.1:p.Ile985fs frameshift NM_001407611.1:c.2952del NP_001394540.1:p.Ile985fs frameshift NM_001407612.1:c.2952del NP_001394541.1:p.Ile985fs frameshift NM_001407613.1:c.2952del NP_001394542.1:p.Ile985fs frameshift NM_001407614.1:c.2952del NP_001394543.1:p.Ile985fs frameshift NM_001407615.1:c.2952del NP_001394544.1:p.Ile985fs frameshift NM_001407616.1:c.2955del NP_001394545.1:p.Ile986fs frameshift NM_001407617.1:c.2955del NP_001394546.1:p.Ile986fs frameshift NM_001407618.1:c.2955del NP_001394547.1:p.Ile986fs frameshift NM_001407619.1:c.2955del NP_001394548.1:p.Ile986fs frameshift NM_001407620.1:c.2955del NP_001394549.1:p.Ile986fs frameshift NM_001407621.1:c.2955del NP_001394550.1:p.Ile986fs frameshift NM_001407622.1:c.2955del NP_001394551.1:p.Ile986fs frameshift NM_001407623.1:c.2955del NP_001394552.1:p.Ile986fs frameshift NM_001407624.1:c.2955del NP_001394553.1:p.Ile986fs frameshift NM_001407625.1:c.2955del NP_001394554.1:p.Ile986fs frameshift NM_001407626.1:c.2955del NP_001394555.1:p.Ile986fs frameshift NM_001407627.1:c.2952del NP_001394556.1:p.Ile985fs frameshift NM_001407628.1:c.2952del NP_001394557.1:p.Ile985fs frameshift NM_001407629.1:c.2952del NP_001394558.1:p.Ile985fs frameshift NM_001407630.1:c.2952del NP_001394559.1:p.Ile985fs frameshift NM_001407631.1:c.2952del NP_001394560.1:p.Ile985fs frameshift NM_001407632.1:c.2952del NP_001394561.1:p.Ile985fs frameshift NM_001407633.1:c.2952del NP_001394562.1:p.Ile985fs frameshift NM_001407634.1:c.2952del NP_001394563.1:p.Ile985fs frameshift NM_001407635.1:c.2952del NP_001394564.1:p.Ile985fs frameshift NM_001407636.1:c.2952del NP_001394565.1:p.Ile985fs frameshift NM_001407637.1:c.2952del NP_001394566.1:p.Ile985fs frameshift NM_001407638.1:c.2952del NP_001394567.1:p.Ile985fs frameshift NM_001407639.1:c.2955del NP_001394568.1:p.Ile986fs frameshift NM_001407640.1:c.2955del NP_001394569.1:p.Ile986fs frameshift NM_001407641.1:c.2955del NP_001394570.1:p.Ile986fs frameshift NM_001407642.1:c.2955del NP_001394571.1:p.Ile986fs frameshift NM_001407644.1:c.2952del NP_001394573.1:p.Ile985fs frameshift NM_001407645.1:c.2952del NP_001394574.1:p.Ile985fs frameshift NM_001407646.1:c.2946del NP_001394575.1:p.Ile983fs frameshift NM_001407647.1:c.2946del NP_001394576.1:p.Ile983fs frameshift NM_001407648.1:c.2832del NP_001394577.1:p.Ile945fs frameshift NM_001407649.1:c.2829del NP_001394578.1:p.Ile944fs frameshift NM_001407652.1:c.2955del NP_001394581.1:p.Ile986fs frameshift NM_001407653.1:c.2877del NP_001394582.1:p.Ile960fs frameshift NM_001407654.1:c.2877del NP_001394583.1:p.Ile960fs frameshift NM_001407655.1:c.2877del NP_001394584.1:p.Ile960fs frameshift NM_001407656.1:c.2877del NP_001394585.1:p.Ile960fs frameshift NM_001407657.1:c.2877del NP_001394586.1:p.Ile960fs frameshift NM_001407658.1:c.2877del NP_001394587.1:p.Ile960fs frameshift NM_001407659.1:c.2874del NP_001394588.1:p.Ile959fs frameshift NM_001407660.1:c.2874del NP_001394589.1:p.Ile959fs frameshift NM_001407661.1:c.2874del NP_001394590.1:p.Ile959fs frameshift NM_001407662.1:c.2874del NP_001394591.1:p.Ile959fs frameshift NM_001407663.1:c.2877del NP_001394592.1:p.Ile960fs frameshift NM_001407664.1:c.2832del NP_001394593.1:p.Ile945fs frameshift NM_001407665.1:c.2832del NP_001394594.1:p.Ile945fs frameshift NM_001407666.1:c.2832del NP_001394595.1:p.Ile945fs frameshift NM_001407667.1:c.2832del NP_001394596.1:p.Ile945fs frameshift NM_001407668.1:c.2832del NP_001394597.1:p.Ile945fs frameshift NM_001407669.1:c.2832del NP_001394598.1:p.Ile945fs frameshift NM_001407670.1:c.2829del NP_001394599.1:p.Ile944fs frameshift NM_001407671.1:c.2829del NP_001394600.1:p.Ile944fs frameshift NM_001407672.1:c.2829del NP_001394601.1:p.Ile944fs frameshift NM_001407673.1:c.2829del NP_001394602.1:p.Ile944fs frameshift NM_001407674.1:c.2832del NP_001394603.1:p.Ile945fs frameshift NM_001407675.1:c.2832del NP_001394604.1:p.Ile945fs frameshift NM_001407676.1:c.2832del NP_001394605.1:p.Ile945fs frameshift NM_001407677.1:c.2832del NP_001394606.1:p.Ile945fs frameshift NM_001407678.1:c.2832del NP_001394607.1:p.Ile945fs frameshift NM_001407679.1:c.2832del NP_001394608.1:p.Ile945fs frameshift NM_001407680.1:c.2832del NP_001394609.1:p.Ile945fs frameshift NM_001407681.1:c.2832del NP_001394610.1:p.Ile945fs frameshift NM_001407682.1:c.2832del NP_001394611.1:p.Ile945fs frameshift NM_001407683.1:c.2832del NP_001394612.1:p.Ile945fs frameshift NM_001407684.1:c.2955del NP_001394613.1:p.Ile986fs frameshift NM_001407685.1:c.2829del NP_001394614.1:p.Ile944fs frameshift NM_001407686.1:c.2829del NP_001394615.1:p.Ile944fs frameshift NM_001407687.1:c.2829del NP_001394616.1:p.Ile944fs frameshift NM_001407688.1:c.2829del NP_001394617.1:p.Ile944fs frameshift NM_001407689.1:c.2829del NP_001394618.1:p.Ile944fs frameshift NM_001407690.1:c.2829del NP_001394619.1:p.Ile944fs frameshift NM_001407691.1:c.2829del NP_001394620.1:p.Ile944fs frameshift NM_001407692.1:c.2814del NP_001394621.1:p.Ile939fs frameshift NM_001407694.1:c.2814del NP_001394623.1:p.Ile939fs frameshift NM_001407695.1:c.2814del NP_001394624.1:p.Ile939fs frameshift NM_001407696.1:c.2814del NP_001394625.1:p.Ile939fs frameshift NM_001407697.1:c.2814del NP_001394626.1:p.Ile939fs frameshift NM_001407698.1:c.2814del NP_001394627.1:p.Ile939fs frameshift NM_001407724.1:c.2814del NP_001394653.1:p.Ile939fs frameshift NM_001407725.1:c.2814del NP_001394654.1:p.Ile939fs frameshift NM_001407726.1:c.2814del NP_001394655.1:p.Ile939fs frameshift NM_001407727.1:c.2814del NP_001394656.1:p.Ile939fs frameshift NM_001407728.1:c.2814del NP_001394657.1:p.Ile939fs frameshift NM_001407729.1:c.2814del NP_001394658.1:p.Ile939fs frameshift NM_001407730.1:c.2814del NP_001394659.1:p.Ile939fs frameshift NM_001407731.1:c.2814del NP_001394660.1:p.Ile939fs frameshift NM_001407732.1:c.2814del NP_001394661.1:p.Ile939fs frameshift NM_001407733.1:c.2814del NP_001394662.1:p.Ile939fs frameshift NM_001407734.1:c.2814del NP_001394663.1:p.Ile939fs frameshift NM_001407735.1:c.2814del NP_001394664.1:p.Ile939fs frameshift NM_001407736.1:c.2814del NP_001394665.1:p.Ile939fs frameshift NM_001407737.1:c.2814del NP_001394666.1:p.Ile939fs frameshift NM_001407738.1:c.2814del NP_001394667.1:p.Ile939fs frameshift NM_001407739.1:c.2814del NP_001394668.1:p.Ile939fs frameshift NM_001407740.1:c.2811del NP_001394669.1:p.Ile938fs frameshift NM_001407741.1:c.2811del NP_001394670.1:p.Ile938fs frameshift NM_001407742.1:c.2811del NP_001394671.1:p.Ile938fs frameshift NM_001407743.1:c.2811del NP_001394672.1:p.Ile938fs frameshift NM_001407744.1:c.2811del NP_001394673.1:p.Ile938fs frameshift NM_001407745.1:c.2811del NP_001394674.1:p.Ile938fs frameshift NM_001407746.1:c.2811del NP_001394675.1:p.Ile938fs frameshift NM_001407747.1:c.2811del NP_001394676.1:p.Ile938fs frameshift NM_001407748.1:c.2811del NP_001394677.1:p.Ile938fs frameshift NM_001407749.1:c.2811del NP_001394678.1:p.Ile938fs frameshift NM_001407750.1:c.2814del NP_001394679.1:p.Ile939fs frameshift NM_001407751.1:c.2814del NP_001394680.1:p.Ile939fs frameshift NM_001407752.1:c.2814del NP_001394681.1:p.Ile939fs frameshift NM_001407838.1:c.2811del NP_001394767.1:p.Ile938fs frameshift NM_001407839.1:c.2811del NP_001394768.1:p.Ile938fs frameshift NM_001407841.1:c.2811del NP_001394770.1:p.Ile938fs frameshift NM_001407842.1:c.2811del NP_001394771.1:p.Ile938fs frameshift NM_001407843.1:c.2811del NP_001394772.1:p.Ile938fs frameshift NM_001407844.1:c.2811del NP_001394773.1:p.Ile938fs frameshift NM_001407845.1:c.2811del NP_001394774.1:p.Ile938fs frameshift NM_001407846.1:c.2811del NP_001394775.1:p.Ile938fs frameshift NM_001407847.1:c.2811del NP_001394776.1:p.Ile938fs frameshift NM_001407848.1:c.2811del NP_001394777.1:p.Ile938fs frameshift NM_001407849.1:c.2811del NP_001394778.1:p.Ile938fs frameshift NM_001407850.1:c.2814del NP_001394779.1:p.Ile939fs frameshift NM_001407851.1:c.2814del NP_001394780.1:p.Ile939fs frameshift NM_001407852.1:c.2814del NP_001394781.1:p.Ile939fs frameshift NM_001407853.1:c.2742del NP_001394782.1:p.Ile915fs frameshift NM_001407854.1:c.2955del NP_001394783.1:p.Ile986fs frameshift NM_001407858.1:c.2955del NP_001394787.1:p.Ile986fs frameshift NM_001407859.1:c.2955del NP_001394788.1:p.Ile986fs frameshift NM_001407860.1:c.2952del NP_001394789.1:p.Ile985fs frameshift NM_001407861.1:c.2952del NP_001394790.1:p.Ile985fs frameshift NM_001407862.1:c.2754del NP_001394791.1:p.Ile919fs frameshift NM_001407863.1:c.2832del NP_001394792.1:p.Ile945fs frameshift NM_001407874.1:c.2751del NP_001394803.1:p.Ile918fs frameshift NM_001407875.1:c.2751del NP_001394804.1:p.Ile918fs frameshift NM_001407879.1:c.2745del NP_001394808.1:p.Ile916fs frameshift NM_001407881.1:c.2745del NP_001394810.1:p.Ile916fs frameshift NM_001407882.1:c.2745del NP_001394811.1:p.Ile916fs frameshift NM_001407884.1:c.2745del NP_001394813.1:p.Ile916fs frameshift NM_001407885.1:c.2745del NP_001394814.1:p.Ile916fs frameshift NM_001407886.1:c.2745del NP_001394815.1:p.Ile916fs frameshift NM_001407887.1:c.2745del NP_001394816.1:p.Ile916fs frameshift NM_001407889.1:c.2745del NP_001394818.1:p.Ile916fs frameshift NM_001407894.1:c.2742del NP_001394823.1:p.Ile915fs frameshift NM_001407895.1:c.2742del NP_001394824.1:p.Ile915fs frameshift NM_001407896.1:c.2742del NP_001394825.1:p.Ile915fs frameshift NM_001407897.1:c.2742del NP_001394826.1:p.Ile915fs frameshift NM_001407898.1:c.2742del NP_001394827.1:p.Ile915fs frameshift NM_001407899.1:c.2742del NP_001394828.1:p.Ile915fs frameshift NM_001407900.1:c.2745del NP_001394829.1:p.Ile916fs frameshift NM_001407902.1:c.2745del NP_001394831.1:p.Ile916fs frameshift NM_001407904.1:c.2745del NP_001394833.1:p.Ile916fs frameshift NM_001407906.1:c.2745del NP_001394835.1:p.Ile916fs frameshift NM_001407907.1:c.2745del NP_001394836.1:p.Ile916fs frameshift NM_001407908.1:c.2745del NP_001394837.1:p.Ile916fs frameshift NM_001407909.1:c.2745del NP_001394838.1:p.Ile916fs frameshift NM_001407910.1:c.2745del NP_001394839.1:p.Ile916fs frameshift NM_001407915.1:c.2742del NP_001394844.1:p.Ile915fs frameshift NM_001407916.1:c.2742del NP_001394845.1:p.Ile915fs frameshift NM_001407917.1:c.2742del NP_001394846.1:p.Ile915fs frameshift NM_001407918.1:c.2742del NP_001394847.1:p.Ile915fs frameshift NM_001407919.1:c.2832del NP_001394848.1:p.Ile945fs frameshift NM_001407920.1:c.2691del NP_001394849.1:p.Ile898fs frameshift NM_001407921.1:c.2691del NP_001394850.1:p.Ile898fs frameshift NM_001407922.1:c.2691del NP_001394851.1:p.Ile898fs frameshift NM_001407923.1:c.2691del NP_001394852.1:p.Ile898fs frameshift NM_001407924.1:c.2691del NP_001394853.1:p.Ile898fs frameshift NM_001407925.1:c.2691del NP_001394854.1:p.Ile898fs frameshift NM_001407926.1:c.2691del NP_001394855.1:p.Ile898fs frameshift NM_001407927.1:c.2691del NP_001394856.1:p.Ile898fs frameshift NM_001407928.1:c.2691del NP_001394857.1:p.Ile898fs frameshift NM_001407929.1:c.2691del NP_001394858.1:p.Ile898fs frameshift NM_001407930.1:c.2688del NP_001394859.1:p.Ile897fs frameshift NM_001407931.1:c.2688del NP_001394860.1:p.Ile897fs frameshift NM_001407932.1:c.2688del NP_001394861.1:p.Ile897fs frameshift NM_001407933.1:c.2691del NP_001394862.1:p.Ile898fs frameshift NM_001407934.1:c.2688del NP_001394863.1:p.Ile897fs frameshift NM_001407935.1:c.2691del NP_001394864.1:p.Ile898fs frameshift NM_001407936.1:c.2688del NP_001394865.1:p.Ile897fs frameshift NM_001407937.1:c.2832del NP_001394866.1:p.Ile945fs frameshift NM_001407938.1:c.2832del NP_001394867.1:p.Ile945fs frameshift NM_001407939.1:c.2832del NP_001394868.1:p.Ile945fs frameshift NM_001407940.1:c.2829del NP_001394869.1:p.Ile944fs frameshift NM_001407941.1:c.2829del NP_001394870.1:p.Ile944fs frameshift NM_001407942.1:c.2814del NP_001394871.1:p.Ile939fs frameshift NM_001407943.1:c.2811del NP_001394872.1:p.Ile938fs frameshift NM_001407944.1:c.2814del NP_001394873.1:p.Ile939fs frameshift NM_001407945.1:c.2814del NP_001394874.1:p.Ile939fs frameshift NM_001407946.1:c.2622del NP_001394875.1:p.Ile875fs frameshift NM_001407947.1:c.2622del NP_001394876.1:p.Ile875fs frameshift NM_001407948.1:c.2622del NP_001394877.1:p.Ile875fs frameshift NM_001407949.1:c.2622del NP_001394878.1:p.Ile875fs frameshift NM_001407950.1:c.2622del NP_001394879.1:p.Ile875fs frameshift NM_001407951.1:c.2622del NP_001394880.1:p.Ile875fs frameshift NM_001407952.1:c.2622del NP_001394881.1:p.Ile875fs frameshift NM_001407953.1:c.2622del NP_001394882.1:p.Ile875fs frameshift NM_001407954.1:c.2619del NP_001394883.1:p.Ile874fs frameshift NM_001407955.1:c.2619del NP_001394884.1:p.Ile874fs frameshift NM_001407956.1:c.2619del NP_001394885.1:p.Ile874fs frameshift NM_001407957.1:c.2622del NP_001394886.1:p.Ile875fs frameshift NM_001407958.1:c.2619del NP_001394887.1:p.Ile874fs frameshift NM_001407959.1:c.2574del NP_001394888.1:p.Ile859fs frameshift NM_001407960.1:c.2574del NP_001394889.1:p.Ile859fs frameshift NM_001407962.1:c.2571del NP_001394891.1:p.Ile858fs frameshift NM_001407963.1:c.2574del NP_001394892.1:p.Ile859fs frameshift NM_001407964.1:c.2811del NP_001394893.1:p.Ile938fs frameshift NM_001407965.1:c.2451del NP_001394894.1:p.Ile818fs frameshift NM_001407966.1:c.2067del NP_001394895.1:p.Ile690fs frameshift NM_001407967.1:c.2067del NP_001394896.1:p.Ile690fs frameshift NM_001407968.1:c.788-437del intron variant NM_001407969.1:c.788-437del intron variant NM_001407970.1:c.788-1544del intron variant NM_001407971.1:c.788-1544del intron variant NM_001407972.1:c.785-1544del intron variant NM_001407973.1:c.788-1544del intron variant NM_001407974.1:c.788-1544del intron variant NM_001407975.1:c.788-1544del intron variant NM_001407976.1:c.788-1544del intron variant NM_001407977.1:c.788-1544del intron variant NM_001407978.1:c.788-1544del intron variant NM_001407979.1:c.788-1544del intron variant NM_001407980.1:c.788-1544del intron variant NM_001407981.1:c.788-1544del intron variant NM_001407982.1:c.788-1544del intron variant NM_001407983.1:c.788-1544del intron variant NM_001407984.1:c.785-1544del intron variant NM_001407985.1:c.785-1544del intron variant NM_001407986.1:c.785-1544del intron variant NM_001407990.1:c.788-1544del intron variant NM_001407991.1:c.785-1544del intron variant NM_001407992.1:c.785-1544del intron variant NM_001407993.1:c.788-1544del intron variant NM_001408392.1:c.785-1544del intron variant NM_001408396.1:c.785-1544del intron variant NM_001408397.1:c.785-1544del intron variant NM_001408398.1:c.785-1544del intron variant NM_001408399.1:c.785-1544del intron variant NM_001408400.1:c.785-1544del intron variant NM_001408401.1:c.785-1544del intron variant NM_001408402.1:c.785-1544del intron variant NM_001408403.1:c.788-1544del intron variant NM_001408404.1:c.788-1544del intron variant NM_001408406.1:c.791-1553del intron variant NM_001408407.1:c.785-1544del intron variant NM_001408408.1:c.779-1544del intron variant NM_001408409.1:c.710-1544del intron variant NM_001408410.1:c.647-1544del intron variant NM_001408411.1:c.710-1544del intron variant NM_001408412.1:c.710-1544del intron variant NM_001408413.1:c.707-1544del intron variant NM_001408414.1:c.710-1544del intron variant NM_001408415.1:c.710-1544del intron variant NM_001408416.1:c.707-1544del intron variant NM_001408418.1:c.671-1544del intron variant NM_001408419.1:c.671-1544del intron variant NM_001408420.1:c.671-1544del intron variant NM_001408421.1:c.668-1544del intron variant NM_001408422.1:c.671-1544del intron variant NM_001408423.1:c.671-1544del intron variant NM_001408424.1:c.668-1544del intron variant NM_001408425.1:c.665-1544del intron variant NM_001408426.1:c.665-1544del intron variant NM_001408427.1:c.665-1544del intron variant NM_001408428.1:c.665-1544del intron variant NM_001408429.1:c.665-1544del intron variant NM_001408430.1:c.665-1544del intron variant NM_001408431.1:c.668-1544del intron variant NM_001408432.1:c.662-1544del intron variant NM_001408433.1:c.662-1544del intron variant NM_001408434.1:c.662-1544del intron variant NM_001408435.1:c.662-1544del intron variant NM_001408436.1:c.665-1544del intron variant NM_001408437.1:c.665-1544del intron variant NM_001408438.1:c.665-1544del intron variant NM_001408439.1:c.665-1544del intron variant NM_001408440.1:c.665-1544del intron variant NM_001408441.1:c.665-1544del intron variant NM_001408442.1:c.665-1544del intron variant NM_001408443.1:c.665-1544del intron variant NM_001408444.1:c.665-1544del intron variant NM_001408445.1:c.662-1544del intron variant NM_001408446.1:c.662-1544del intron variant NM_001408447.1:c.662-1544del intron variant NM_001408448.1:c.662-1544del intron variant NM_001408450.1:c.662-1544del intron variant NM_001408451.1:c.653-1544del intron variant NM_001408452.1:c.647-1544del intron variant NM_001408453.1:c.647-1544del intron variant NM_001408454.1:c.647-1544del intron variant NM_001408455.1:c.647-1544del intron variant NM_001408456.1:c.647-1544del intron variant NM_001408457.1:c.647-1544del intron variant NM_001408458.1:c.647-1544del intron variant NM_001408459.1:c.647-1544del intron variant NM_001408460.1:c.647-1544del intron variant NM_001408461.1:c.647-1544del intron variant NM_001408462.1:c.644-1544del intron variant NM_001408463.1:c.644-1544del intron variant NM_001408464.1:c.644-1544del intron variant NM_001408465.1:c.644-1544del intron variant NM_001408466.1:c.647-1544del intron variant NM_001408467.1:c.647-1544del intron variant NM_001408468.1:c.644-1544del intron variant NM_001408469.1:c.647-1544del intron variant NM_001408470.1:c.644-1544del intron variant NM_001408472.1:c.788-1544del intron variant NM_001408473.1:c.785-1544del intron variant NM_001408474.1:c.587-1544del intron variant NM_001408475.1:c.584-1544del intron variant NM_001408476.1:c.587-1544del intron variant NM_001408478.1:c.578-1544del intron variant NM_001408479.1:c.578-1544del intron variant NM_001408480.1:c.578-1544del intron variant NM_001408481.1:c.578-1544del intron variant NM_001408482.1:c.578-1544del intron variant NM_001408483.1:c.578-1544del intron variant NM_001408484.1:c.578-1544del intron variant NM_001408485.1:c.578-1544del intron variant NM_001408489.1:c.578-1544del intron variant NM_001408490.1:c.575-1544del intron variant NM_001408491.1:c.575-1544del intron variant NM_001408492.1:c.578-1544del intron variant NM_001408493.1:c.575-1544del intron variant NM_001408494.1:c.548-1544del intron variant NM_001408495.1:c.545-1544del intron variant NM_001408496.1:c.524-1544del intron variant NM_001408497.1:c.524-1544del intron variant NM_001408498.1:c.524-1544del intron variant NM_001408499.1:c.524-1544del intron variant NM_001408500.1:c.524-1544del intron variant NM_001408501.1:c.524-1544del intron variant NM_001408502.1:c.455-1544del intron variant NM_001408503.1:c.521-1544del intron variant NM_001408504.1:c.521-1544del intron variant NM_001408505.1:c.521-1544del intron variant NM_001408506.1:c.461-1544del intron variant NM_001408507.1:c.461-1544del intron variant NM_001408508.1:c.452-1544del intron variant NM_001408509.1:c.452-1544del intron variant NM_001408510.1:c.407-1544del intron variant NM_001408511.1:c.404-1544del intron variant NM_001408512.1:c.284-1544del intron variant NM_001408513.1:c.578-1544del intron variant NM_001408514.1:c.578-1544del intron variant NM_007294.3:c.2955delC frameshift NM_007297.4:c.2814del NP_009228.2:p.Ile939fs frameshift NM_007298.4:c.788-1544del intron variant NM_007299.4:c.788-1544del intron variant NM_007300.4:c.2955del NP_009231.2:p.Ile986fs frameshift NR_027676.1:n.3089delC NC_000017.11:g.43092578del NC_000017.10:g.41244595del NG_005905.2:g.125408del LRG_292:g.125408del LRG_292t1:c.2953del LRG_292p1:p.Ile986Serfs - Protein change
- I939fs, I986fs, I874fs, I898fs, I944fs, I959fs, I690fs, I818fs, I915fs, I916fs, I938fs, I960fs, I985fs, I858fs, I859fs, I875fs, I897fs, I918fs, I919fs, I945fs, I983fs
- Other names
- 3074delC
- Canonical SPDI
- NC_000017.11:43092575:GGG:GG
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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 |
13029 | 14833 |
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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Sep 8, 2016 | RCV000083192.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 16, 2021 | RCV002433543.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 3, 2023 | RCV003529961.2 |
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
(Sep 08, 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: SCV000299863.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Jul 16, 2021)
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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: SCV002751961.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.2955delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2955, causing … (more)
The c.2955delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2955, causing a translational frameshift with a predicted alternate stop codon (p.I986Sfs*14). This alteration was identified in an individual diagnosed with triple negative breast cancer at the age of 27 (Robertson L et al. Br J Cancer, 2012 Mar;106:1234-8). 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 03, 2023)
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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: SCV004296823.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Ile986Serfs*14) 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.Ile986Serfs*14) 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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 22333603). ClinVar contains an entry for this variant (Variation ID: 54731). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Apr 03, 2013)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000115266.2
First in ClinVar: Feb 06, 2014 Last updated: Sep 27, 2014 |
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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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BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. | Robertson L | British journal of cancer | 2012 | PMID: 22333603 |
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 rs397509027 ...
HelpRecord last updated Oct 08, 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.