ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs)
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.3044dup (p.Asn1016fs)
Variation ID: 125601 Accession: VCV000125601.17
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092486-43092487 (GRCh38) [ NCBI UCSC ] 17: 41244503-41244504 (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 Apr 4, 2014 Feb 14, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3044dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1016fs frameshift NM_001407571.1:c.2831dup NP_001394500.1:p.Asn945fs frameshift NM_001407581.1:c.3044dup NP_001394510.1:p.Asn1016fs frameshift NM_001407582.1:c.3044dup NP_001394511.1:p.Asn1016fs frameshift NM_001407583.1:c.3044dup NP_001394512.1:p.Asn1016fs frameshift NM_001407585.1:c.3044dup NP_001394514.1:p.Asn1016fs frameshift NM_001407587.1:c.3041dup NP_001394516.1:p.Asn1015fs frameshift NM_001407590.1:c.3041dup NP_001394519.1:p.Asn1015fs frameshift NM_001407591.1:c.3041dup NP_001394520.1:p.Asn1015fs frameshift NM_001407593.1:c.3044dup NP_001394522.1:p.Asn1016fs frameshift NM_001407594.1:c.3044dup NP_001394523.1:p.Asn1016fs frameshift NM_001407596.1:c.3044dup NP_001394525.1:p.Asn1016fs frameshift NM_001407597.1:c.3044dup NP_001394526.1:p.Asn1016fs frameshift NM_001407598.1:c.3044dup NP_001394527.1:p.Asn1016fs frameshift NM_001407602.1:c.3044dup NP_001394531.1:p.Asn1016fs frameshift NM_001407603.1:c.3044dup NP_001394532.1:p.Asn1016fs frameshift NM_001407605.1:c.3044dup NP_001394534.1:p.Asn1016fs frameshift NM_001407610.1:c.3041dup NP_001394539.1:p.Asn1015fs frameshift NM_001407611.1:c.3041dup NP_001394540.1:p.Asn1015fs frameshift NM_001407612.1:c.3041dup NP_001394541.1:p.Asn1015fs frameshift NM_001407613.1:c.3041dup NP_001394542.1:p.Asn1015fs frameshift NM_001407614.1:c.3041dup NP_001394543.1:p.Asn1015fs frameshift NM_001407615.1:c.3041dup NP_001394544.1:p.Asn1015fs frameshift NM_001407616.1:c.3044dup NP_001394545.1:p.Asn1016fs frameshift NM_001407617.1:c.3044dup NP_001394546.1:p.Asn1016fs frameshift NM_001407618.1:c.3044dup NP_001394547.1:p.Asn1016fs frameshift NM_001407619.1:c.3044dup NP_001394548.1:p.Asn1016fs frameshift NM_001407620.1:c.3044dup NP_001394549.1:p.Asn1016fs frameshift NM_001407621.1:c.3044dup NP_001394550.1:p.Asn1016fs frameshift NM_001407622.1:c.3044dup NP_001394551.1:p.Asn1016fs frameshift NM_001407623.1:c.3044dup NP_001394552.1:p.Asn1016fs frameshift NM_001407624.1:c.3044dup NP_001394553.1:p.Asn1016fs frameshift NM_001407625.1:c.3044dup NP_001394554.1:p.Asn1016fs frameshift NM_001407626.1:c.3044dup NP_001394555.1:p.Asn1016fs frameshift NM_001407627.1:c.3041dup NP_001394556.1:p.Asn1015fs frameshift NM_001407628.1:c.3041dup NP_001394557.1:p.Asn1015fs frameshift NM_001407629.1:c.3041dup NP_001394558.1:p.Asn1015fs frameshift NM_001407630.1:c.3041dup NP_001394559.1:p.Asn1015fs frameshift NM_001407631.1:c.3041dup NP_001394560.1:p.Asn1015fs frameshift NM_001407632.1:c.3041dup NP_001394561.1:p.Asn1015fs frameshift NM_001407633.1:c.3041dup NP_001394562.1:p.Asn1015fs frameshift NM_001407634.1:c.3041dup NP_001394563.1:p.Asn1015fs frameshift NM_001407635.1:c.3041dup NP_001394564.1:p.Asn1015fs frameshift NM_001407636.1:c.3041dup NP_001394565.1:p.Asn1015fs frameshift NM_001407637.1:c.3041dup NP_001394566.1:p.Asn1015fs frameshift NM_001407638.1:c.3041dup NP_001394567.1:p.Asn1015fs frameshift NM_001407639.1:c.3044dup NP_001394568.1:p.Asn1016fs frameshift NM_001407640.1:c.3044dup NP_001394569.1:p.Asn1016fs frameshift NM_001407641.1:c.3044dup NP_001394570.1:p.Asn1016fs frameshift NM_001407642.1:c.3044dup NP_001394571.1:p.Asn1016fs frameshift NM_001407644.1:c.3041dup NP_001394573.1:p.Asn1015fs frameshift NM_001407645.1:c.3041dup NP_001394574.1:p.Asn1015fs frameshift NM_001407646.1:c.3035dup NP_001394575.1:p.Asn1013fs frameshift NM_001407647.1:c.3035dup NP_001394576.1:p.Asn1013fs frameshift NM_001407648.1:c.2921dup NP_001394577.1:p.Asn975fs frameshift NM_001407649.1:c.2918dup NP_001394578.1:p.Asn974fs frameshift NM_001407652.1:c.3044dup NP_001394581.1:p.Asn1016fs frameshift NM_001407653.1:c.2966dup NP_001394582.1:p.Asn990fs frameshift NM_001407654.1:c.2966dup NP_001394583.1:p.Asn990fs frameshift NM_001407655.1:c.2966dup NP_001394584.1:p.Asn990fs frameshift NM_001407656.1:c.2966dup NP_001394585.1:p.Asn990fs frameshift NM_001407657.1:c.2966dup NP_001394586.1:p.Asn990fs frameshift NM_001407658.1:c.2966dup NP_001394587.1:p.Asn990fs frameshift NM_001407659.1:c.2963dup NP_001394588.1:p.Asn989fs frameshift NM_001407660.1:c.2963dup NP_001394589.1:p.Asn989fs frameshift NM_001407661.1:c.2963dup NP_001394590.1:p.Asn989fs frameshift NM_001407662.1:c.2963dup NP_001394591.1:p.Asn989fs frameshift NM_001407663.1:c.2966dup NP_001394592.1:p.Asn990fs frameshift NM_001407664.1:c.2921dup NP_001394593.1:p.Asn975fs frameshift NM_001407665.1:c.2921dup NP_001394594.1:p.Asn975fs frameshift NM_001407666.1:c.2921dup NP_001394595.1:p.Asn975fs frameshift NM_001407667.1:c.2921dup NP_001394596.1:p.Asn975fs frameshift NM_001407668.1:c.2921dup NP_001394597.1:p.Asn975fs frameshift NM_001407669.1:c.2921dup NP_001394598.1:p.Asn975fs frameshift NM_001407670.1:c.2918dup NP_001394599.1:p.Asn974fs frameshift NM_001407671.1:c.2918dup NP_001394600.1:p.Asn974fs frameshift NM_001407672.1:c.2918dup NP_001394601.1:p.Asn974fs frameshift NM_001407673.1:c.2918dup NP_001394602.1:p.Asn974fs frameshift NM_001407674.1:c.2921dup NP_001394603.1:p.Asn975fs frameshift NM_001407675.1:c.2921dup NP_001394604.1:p.Asn975fs frameshift NM_001407676.1:c.2921dup NP_001394605.1:p.Asn975fs frameshift NM_001407677.1:c.2921dup NP_001394606.1:p.Asn975fs frameshift NM_001407678.1:c.2921dup NP_001394607.1:p.Asn975fs frameshift NM_001407679.1:c.2921dup NP_001394608.1:p.Asn975fs frameshift NM_001407680.1:c.2921dup NP_001394609.1:p.Asn975fs frameshift NM_001407681.1:c.2921dup NP_001394610.1:p.Asn975fs frameshift NM_001407682.1:c.2921dup NP_001394611.1:p.Asn975fs frameshift NM_001407683.1:c.2921dup NP_001394612.1:p.Asn975fs frameshift NM_001407684.1:c.3044dup NP_001394613.1:p.Asn1016fs frameshift NM_001407685.1:c.2918dup NP_001394614.1:p.Asn974fs frameshift NM_001407686.1:c.2918dup NP_001394615.1:p.Asn974fs frameshift NM_001407687.1:c.2918dup NP_001394616.1:p.Asn974fs frameshift NM_001407688.1:c.2918dup NP_001394617.1:p.Asn974fs frameshift NM_001407689.1:c.2918dup NP_001394618.1:p.Asn974fs frameshift NM_001407690.1:c.2918dup NP_001394619.1:p.Asn974fs frameshift NM_001407691.1:c.2918dup NP_001394620.1:p.Asn974fs frameshift NM_001407692.1:c.2903dup NP_001394621.1:p.Asn969fs frameshift NM_001407694.1:c.2903dup NP_001394623.1:p.Asn969fs frameshift NM_001407695.1:c.2903dup NP_001394624.1:p.Asn969fs frameshift NM_001407696.1:c.2903dup NP_001394625.1:p.Asn969fs frameshift NM_001407697.1:c.2903dup NP_001394626.1:p.Asn969fs frameshift NM_001407698.1:c.2903dup NP_001394627.1:p.Asn969fs frameshift NM_001407724.1:c.2903dup NP_001394653.1:p.Asn969fs frameshift NM_001407725.1:c.2903dup NP_001394654.1:p.Asn969fs frameshift NM_001407726.1:c.2903dup NP_001394655.1:p.Asn969fs frameshift NM_001407727.1:c.2903dup NP_001394656.1:p.Asn969fs frameshift NM_001407728.1:c.2903dup NP_001394657.1:p.Asn969fs frameshift NM_001407729.1:c.2903dup NP_001394658.1:p.Asn969fs frameshift NM_001407730.1:c.2903dup NP_001394659.1:p.Asn969fs frameshift NM_001407731.1:c.2903dup NP_001394660.1:p.Asn969fs frameshift NM_001407732.1:c.2903dup NP_001394661.1:p.Asn969fs frameshift NM_001407733.1:c.2903dup NP_001394662.1:p.Asn969fs frameshift NM_001407734.1:c.2903dup NP_001394663.1:p.Asn969fs frameshift NM_001407735.1:c.2903dup NP_001394664.1:p.Asn969fs frameshift NM_001407736.1:c.2903dup NP_001394665.1:p.Asn969fs frameshift NM_001407737.1:c.2903dup NP_001394666.1:p.Asn969fs frameshift NM_001407738.1:c.2903dup NP_001394667.1:p.Asn969fs frameshift NM_001407739.1:c.2903dup NP_001394668.1:p.Asn969fs frameshift NM_001407740.1:c.2900dup NP_001394669.1:p.Asn968fs frameshift NM_001407741.1:c.2900dup NP_001394670.1:p.Asn968fs frameshift NM_001407742.1:c.2900dup NP_001394671.1:p.Asn968fs frameshift NM_001407743.1:c.2900dup NP_001394672.1:p.Asn968fs frameshift NM_001407744.1:c.2900dup NP_001394673.1:p.Asn968fs frameshift NM_001407745.1:c.2900dup NP_001394674.1:p.Asn968fs frameshift NM_001407746.1:c.2900dup NP_001394675.1:p.Asn968fs frameshift NM_001407747.1:c.2900dup NP_001394676.1:p.Asn968fs frameshift NM_001407748.1:c.2900dup NP_001394677.1:p.Asn968fs frameshift NM_001407749.1:c.2900dup NP_001394678.1:p.Asn968fs frameshift NM_001407750.1:c.2903dup NP_001394679.1:p.Asn969fs frameshift NM_001407751.1:c.2903dup NP_001394680.1:p.Asn969fs frameshift NM_001407752.1:c.2903dup NP_001394681.1:p.Asn969fs frameshift NM_001407838.1:c.2900dup NP_001394767.1:p.Asn968fs frameshift NM_001407839.1:c.2900dup NP_001394768.1:p.Asn968fs frameshift NM_001407841.1:c.2900dup NP_001394770.1:p.Asn968fs frameshift NM_001407842.1:c.2900dup NP_001394771.1:p.Asn968fs frameshift NM_001407843.1:c.2900dup NP_001394772.1:p.Asn968fs frameshift NM_001407844.1:c.2900dup NP_001394773.1:p.Asn968fs frameshift NM_001407845.1:c.2900dup NP_001394774.1:p.Asn968fs frameshift NM_001407846.1:c.2900dup NP_001394775.1:p.Asn968fs frameshift NM_001407847.1:c.2900dup NP_001394776.1:p.Asn968fs frameshift NM_001407848.1:c.2900dup NP_001394777.1:p.Asn968fs frameshift NM_001407849.1:c.2900dup NP_001394778.1:p.Asn968fs frameshift NM_001407850.1:c.2903dup NP_001394779.1:p.Asn969fs frameshift NM_001407851.1:c.2903dup NP_001394780.1:p.Asn969fs frameshift NM_001407852.1:c.2903dup NP_001394781.1:p.Asn969fs frameshift NM_001407853.1:c.2831dup NP_001394782.1:p.Asn945fs frameshift NM_001407854.1:c.3044dup NP_001394783.1:p.Asn1016fs frameshift NM_001407858.1:c.3044dup NP_001394787.1:p.Asn1016fs frameshift NM_001407859.1:c.3044dup NP_001394788.1:p.Asn1016fs frameshift NM_001407860.1:c.3041dup NP_001394789.1:p.Asn1015fs frameshift NM_001407861.1:c.3041dup NP_001394790.1:p.Asn1015fs frameshift NM_001407862.1:c.2843dup NP_001394791.1:p.Asn949fs frameshift NM_001407863.1:c.2921dup NP_001394792.1:p.Asn975fs frameshift NM_001407874.1:c.2840dup NP_001394803.1:p.Asn948fs frameshift NM_001407875.1:c.2840dup NP_001394804.1:p.Asn948fs frameshift NM_001407879.1:c.2834dup NP_001394808.1:p.Asn946fs frameshift NM_001407881.1:c.2834dup NP_001394810.1:p.Asn946fs frameshift NM_001407882.1:c.2834dup NP_001394811.1:p.Asn946fs frameshift NM_001407884.1:c.2834dup NP_001394813.1:p.Asn946fs frameshift NM_001407885.1:c.2834dup NP_001394814.1:p.Asn946fs frameshift NM_001407886.1:c.2834dup NP_001394815.1:p.Asn946fs frameshift NM_001407887.1:c.2834dup NP_001394816.1:p.Asn946fs frameshift NM_001407889.1:c.2834dup NP_001394818.1:p.Asn946fs frameshift NM_001407894.1:c.2831dup NP_001394823.1:p.Asn945fs frameshift NM_001407895.1:c.2831dup NP_001394824.1:p.Asn945fs frameshift NM_001407896.1:c.2831dup NP_001394825.1:p.Asn945fs frameshift NM_001407897.1:c.2831dup NP_001394826.1:p.Asn945fs frameshift NM_001407898.1:c.2831dup NP_001394827.1:p.Asn945fs frameshift NM_001407899.1:c.2831dup NP_001394828.1:p.Asn945fs frameshift NM_001407900.1:c.2834dup NP_001394829.1:p.Asn946fs frameshift NM_001407902.1:c.2834dup NP_001394831.1:p.Asn946fs frameshift NM_001407904.1:c.2834dup NP_001394833.1:p.Asn946fs frameshift NM_001407906.1:c.2834dup NP_001394835.1:p.Asn946fs frameshift NM_001407907.1:c.2834dup NP_001394836.1:p.Asn946fs frameshift NM_001407908.1:c.2834dup NP_001394837.1:p.Asn946fs frameshift NM_001407909.1:c.2834dup NP_001394838.1:p.Asn946fs frameshift NM_001407910.1:c.2834dup NP_001394839.1:p.Asn946fs frameshift NM_001407915.1:c.2831dup NP_001394844.1:p.Asn945fs frameshift NM_001407916.1:c.2831dup NP_001394845.1:p.Asn945fs frameshift NM_001407917.1:c.2831dup NP_001394846.1:p.Asn945fs frameshift NM_001407918.1:c.2831dup NP_001394847.1:p.Asn945fs frameshift NM_001407919.1:c.2921dup NP_001394848.1:p.Asn975fs frameshift NM_001407920.1:c.2780dup NP_001394849.1:p.Asn928fs frameshift NM_001407921.1:c.2780dup NP_001394850.1:p.Asn928fs frameshift NM_001407922.1:c.2780dup NP_001394851.1:p.Asn928fs frameshift NM_001407923.1:c.2780dup NP_001394852.1:p.Asn928fs frameshift NM_001407924.1:c.2780dup NP_001394853.1:p.Asn928fs frameshift NM_001407925.1:c.2780dup NP_001394854.1:p.Asn928fs frameshift NM_001407926.1:c.2780dup NP_001394855.1:p.Asn928fs frameshift NM_001407927.1:c.2780dup NP_001394856.1:p.Asn928fs frameshift NM_001407928.1:c.2780dup NP_001394857.1:p.Asn928fs frameshift NM_001407929.1:c.2780dup NP_001394858.1:p.Asn928fs frameshift NM_001407930.1:c.2777dup NP_001394859.1:p.Asn927fs frameshift NM_001407931.1:c.2777dup NP_001394860.1:p.Asn927fs frameshift NM_001407932.1:c.2777dup NP_001394861.1:p.Asn927fs frameshift NM_001407933.1:c.2780dup NP_001394862.1:p.Asn928fs frameshift NM_001407934.1:c.2777dup NP_001394863.1:p.Asn927fs frameshift NM_001407935.1:c.2780dup NP_001394864.1:p.Asn928fs frameshift NM_001407936.1:c.2777dup NP_001394865.1:p.Asn927fs frameshift NM_001407937.1:c.2921dup NP_001394866.1:p.Asn975fs frameshift NM_001407938.1:c.2921dup NP_001394867.1:p.Asn975fs frameshift NM_001407939.1:c.2921dup NP_001394868.1:p.Asn975fs frameshift NM_001407940.1:c.2918dup NP_001394869.1:p.Asn974fs frameshift NM_001407941.1:c.2918dup NP_001394870.1:p.Asn974fs frameshift NM_001407942.1:c.2903dup NP_001394871.1:p.Asn969fs frameshift NM_001407943.1:c.2900dup NP_001394872.1:p.Asn968fs frameshift NM_001407944.1:c.2903dup NP_001394873.1:p.Asn969fs frameshift NM_001407945.1:c.2903dup NP_001394874.1:p.Asn969fs frameshift NM_001407946.1:c.2711dup NP_001394875.1:p.Asn905fs frameshift NM_001407947.1:c.2711dup NP_001394876.1:p.Asn905fs frameshift NM_001407948.1:c.2711dup NP_001394877.1:p.Asn905fs frameshift NM_001407949.1:c.2711dup NP_001394878.1:p.Asn905fs frameshift NM_001407950.1:c.2711dup NP_001394879.1:p.Asn905fs frameshift NM_001407951.1:c.2711dup NP_001394880.1:p.Asn905fs frameshift NM_001407952.1:c.2711dup NP_001394881.1:p.Asn905fs frameshift NM_001407953.1:c.2711dup NP_001394882.1:p.Asn905fs frameshift NM_001407954.1:c.2708dup NP_001394883.1:p.Asn904fs frameshift NM_001407955.1:c.2708dup NP_001394884.1:p.Asn904fs frameshift NM_001407956.1:c.2708dup NP_001394885.1:p.Asn904fs frameshift NM_001407957.1:c.2711dup NP_001394886.1:p.Asn905fs frameshift NM_001407958.1:c.2708dup NP_001394887.1:p.Asn904fs frameshift NM_001407959.1:c.2663dup NP_001394888.1:p.Asn889fs frameshift NM_001407960.1:c.2663dup NP_001394889.1:p.Asn889fs frameshift NM_001407962.1:c.2660dup NP_001394891.1:p.Asn888fs frameshift NM_001407963.1:c.2663dup NP_001394892.1:p.Asn889fs frameshift NM_001407964.1:c.2900dup NP_001394893.1:p.Asn968fs frameshift NM_001407965.1:c.2540dup NP_001394894.1:p.Asn848fs frameshift NM_001407966.1:c.2156dup NP_001394895.1:p.Asn720fs frameshift NM_001407967.1:c.2156dup NP_001394896.1:p.Asn720fs frameshift NM_001407968.1:c.788-348dup intron variant NM_001407969.1:c.788-348dup intron variant NM_001407970.1:c.788-1455dup intron variant NM_001407971.1:c.788-1455dup intron variant NM_001407972.1:c.785-1455dup intron variant NM_001407973.1:c.788-1455dup intron variant NM_001407974.1:c.788-1455dup intron variant NM_001407975.1:c.788-1455dup intron variant NM_001407976.1:c.788-1455dup intron variant NM_001407977.1:c.788-1455dup intron variant NM_001407978.1:c.788-1455dup intron variant NM_001407979.1:c.788-1455dup intron variant NM_001407980.1:c.788-1455dup intron variant NM_001407981.1:c.788-1455dup intron variant NM_001407982.1:c.788-1455dup intron variant NM_001407983.1:c.788-1455dup intron variant NM_001407984.1:c.785-1455dup intron variant NM_001407985.1:c.785-1455dup intron variant NM_001407986.1:c.785-1455dup intron variant NM_001407990.1:c.788-1455dup intron variant NM_001407991.1:c.785-1455dup intron variant NM_001407992.1:c.785-1455dup intron variant NM_001407993.1:c.788-1455dup intron variant NM_001408392.1:c.785-1455dup intron variant NM_001408396.1:c.785-1455dup intron variant NM_001408397.1:c.785-1455dup intron variant NM_001408398.1:c.785-1455dup intron variant NM_001408399.1:c.785-1455dup intron variant NM_001408400.1:c.785-1455dup intron variant NM_001408401.1:c.785-1455dup intron variant NM_001408402.1:c.785-1455dup intron variant NM_001408403.1:c.788-1455dup intron variant NM_001408404.1:c.788-1455dup intron variant NM_001408406.1:c.791-1464dup intron variant NM_001408407.1:c.785-1455dup intron variant NM_001408408.1:c.779-1455dup intron variant NM_001408409.1:c.710-1455dup intron variant NM_001408410.1:c.647-1455dup intron variant NM_001408411.1:c.710-1455dup intron variant NM_001408412.1:c.710-1455dup intron variant NM_001408413.1:c.707-1455dup intron variant NM_001408414.1:c.710-1455dup intron variant NM_001408415.1:c.710-1455dup intron variant NM_001408416.1:c.707-1455dup intron variant NM_001408418.1:c.671-1455dup intron variant NM_001408419.1:c.671-1455dup intron variant NM_001408420.1:c.671-1455dup intron variant NM_001408421.1:c.668-1455dup intron variant NM_001408422.1:c.671-1455dup intron variant NM_001408423.1:c.671-1455dup intron variant NM_001408424.1:c.668-1455dup intron variant NM_001408425.1:c.665-1455dup intron variant NM_001408426.1:c.665-1455dup intron variant NM_001408427.1:c.665-1455dup intron variant NM_001408428.1:c.665-1455dup intron variant NM_001408429.1:c.665-1455dup intron variant NM_001408430.1:c.665-1455dup intron variant NM_001408431.1:c.668-1455dup intron variant NM_001408432.1:c.662-1455dup intron variant NM_001408433.1:c.662-1455dup intron variant NM_001408434.1:c.662-1455dup intron variant NM_001408435.1:c.662-1455dup intron variant NM_001408436.1:c.665-1455dup intron variant NM_001408437.1:c.665-1455dup intron variant NM_001408438.1:c.665-1455dup intron variant NM_001408439.1:c.665-1455dup intron variant NM_001408440.1:c.665-1455dup intron variant NM_001408441.1:c.665-1455dup intron variant NM_001408442.1:c.665-1455dup intron variant NM_001408443.1:c.665-1455dup intron variant NM_001408444.1:c.665-1455dup intron variant NM_001408445.1:c.662-1455dup intron variant NM_001408446.1:c.662-1455dup intron variant NM_001408447.1:c.662-1455dup intron variant NM_001408448.1:c.662-1455dup intron variant NM_001408450.1:c.662-1455dup intron variant NM_001408451.1:c.653-1455dup intron variant NM_001408452.1:c.647-1455dup intron variant NM_001408453.1:c.647-1455dup intron variant NM_001408454.1:c.647-1455dup intron variant NM_001408455.1:c.647-1455dup intron variant NM_001408456.1:c.647-1455dup intron variant NM_001408457.1:c.647-1455dup intron variant NM_001408458.1:c.647-1455dup intron variant NM_001408459.1:c.647-1455dup intron variant NM_001408460.1:c.647-1455dup intron variant NM_001408461.1:c.647-1455dup intron variant NM_001408462.1:c.644-1455dup intron variant NM_001408463.1:c.644-1455dup intron variant NM_001408464.1:c.644-1455dup intron variant NM_001408465.1:c.644-1455dup intron variant NM_001408466.1:c.647-1455dup intron variant NM_001408467.1:c.647-1455dup intron variant NM_001408468.1:c.644-1455dup intron variant NM_001408469.1:c.647-1455dup intron variant NM_001408470.1:c.644-1455dup intron variant NM_001408472.1:c.788-1455dup intron variant NM_001408473.1:c.785-1455dup intron variant NM_001408474.1:c.587-1455dup intron variant NM_001408475.1:c.584-1455dup intron variant NM_001408476.1:c.587-1455dup intron variant NM_001408478.1:c.578-1455dup intron variant NM_001408479.1:c.578-1455dup intron variant NM_001408480.1:c.578-1455dup intron variant NM_001408481.1:c.578-1455dup intron variant NM_001408482.1:c.578-1455dup intron variant NM_001408483.1:c.578-1455dup intron variant NM_001408484.1:c.578-1455dup intron variant NM_001408485.1:c.578-1455dup intron variant NM_001408489.1:c.578-1455dup intron variant NM_001408490.1:c.575-1455dup intron variant NM_001408491.1:c.575-1455dup intron variant NM_001408492.1:c.578-1455dup intron variant NM_001408493.1:c.575-1455dup intron variant NM_001408494.1:c.548-1455dup intron variant NM_001408495.1:c.545-1455dup intron variant NM_001408496.1:c.524-1455dup intron variant NM_001408497.1:c.524-1455dup intron variant NM_001408498.1:c.524-1455dup intron variant NM_001408499.1:c.524-1455dup intron variant NM_001408500.1:c.524-1455dup intron variant NM_001408501.1:c.524-1455dup intron variant NM_001408502.1:c.455-1455dup intron variant NM_001408503.1:c.521-1455dup intron variant NM_001408504.1:c.521-1455dup intron variant NM_001408505.1:c.521-1455dup intron variant NM_001408506.1:c.461-1455dup intron variant NM_001408507.1:c.461-1455dup intron variant NM_001408508.1:c.452-1455dup intron variant NM_001408509.1:c.452-1455dup intron variant NM_001408510.1:c.407-1455dup intron variant NM_001408511.1:c.404-1455dup intron variant NM_001408512.1:c.284-1455dup intron variant NM_001408513.1:c.578-1455dup intron variant NM_001408514.1:c.578-1455dup intron variant NM_007294.3:c.3044dupG frameshift NM_007297.4:c.2903dup NP_009228.2:p.Asn969fs frameshift NM_007298.4:c.788-1455dup intron variant NM_007299.4:c.788-1455dup intron variant NM_007300.4:c.3044dup NP_009231.2:p.Asn1016fs frameshift NR_027676.1:n.3178dup NC_000017.11:g.43092489dup NC_000017.10:g.41244506dup NG_005905.2:g.125497dup LRG_292:g.125497dup LRG_292t1:c.3042dup LRG_292p1:p.Asn1016Lysfs U14680.1:n.3163_3164insG - Protein change
- N969fs, N1016fs, N1013fs, N1015fs, N904fs, N905fs, N927fs, N928fs, N948fs, N949fs, N975fs, N946fs, N888fs, N889fs, N990fs, N848fs, N945fs, N968fs, N974fs, N989fs, N720fs
- Other names
- 3163insG
- Canonical SPDI
- NC_000017.11:43092486:CCC:CCCC
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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 | 14513 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (4) |
reviewed by expert panel
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Sep 8, 2016 | RCV000111990.14 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 11, 2019 | RCV000131956.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 11, 2024 | RCV000695649.14 | |
Pathogenic (1) |
criteria provided, single submitter
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May 10, 2019 | RCV001555404.10 |
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)
|
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: SCV000299878.2
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
(May 10, 2019)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001776818.1
First in ClinVar: Aug 13, 2021 Last updated: Aug 13, 2021 |
Comment:
Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29446198, 28152038)
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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: SCV000325543.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jan 31, 2023)
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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:
unknown
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Baylor Genetics
Accession: SCV004216844.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jan 11, 2024)
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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: SCV000824161.4
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Asn1016Lysfs*2) 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.Asn1016Lysfs*2) 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 and ovarian cancers (PMID: 31336956). ClinVar contains an entry for this variant (Variation ID: 125601). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 11, 2019)
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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: SCV000187013.7
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
The c.3044dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 3044, causing a … (more)
The c.3044dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 3044, causing a translational frameshift with a predicted alternate stop codon (p.N1016Kfs*2). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 May;39:593-620). 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)
Number of individuals with the variant: 1
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Pathogenic
(Nov 25, 2004)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144620.1
First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean
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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 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants. | Concolino P | International journal of molecular sciences | 2019 | PMID: 31336956 |
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 |
Text-mined citations for rs80357746 ...
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.