ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3331del (p.Gln1111fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3331del (p.Gln1111fs)
Variation ID: 266356 Accession: VCV000266356.7
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 41244217 (GRCh37) [ NCBI UCSC ] 17: 43092200 (GRCh38) [ 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 Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3331del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1111fs frameshift NM_001407571.1:c.3118del NP_001394500.1:p.Gln1040fs frameshift NM_001407581.1:c.3331del NP_001394510.1:p.Gln1111fs frameshift NM_001407582.1:c.3331del NP_001394511.1:p.Gln1111fs frameshift NM_001407583.1:c.3331del NP_001394512.1:p.Gln1111fs frameshift NM_001407585.1:c.3331del NP_001394514.1:p.Gln1111fs frameshift NM_001407587.1:c.3328del NP_001394516.1:p.Gln1110fs frameshift NM_001407590.1:c.3328del NP_001394519.1:p.Gln1110fs frameshift NM_001407591.1:c.3328del NP_001394520.1:p.Gln1110fs frameshift NM_001407593.1:c.3331del NP_001394522.1:p.Gln1111fs frameshift NM_001407594.1:c.3331del NP_001394523.1:p.Gln1111fs frameshift NM_001407596.1:c.3331del NP_001394525.1:p.Gln1111fs frameshift NM_001407597.1:c.3331del NP_001394526.1:p.Gln1111fs frameshift NM_001407598.1:c.3331del NP_001394527.1:p.Gln1111fs frameshift NM_001407602.1:c.3331del NP_001394531.1:p.Gln1111fs frameshift NM_001407603.1:c.3331del NP_001394532.1:p.Gln1111fs frameshift NM_001407605.1:c.3331del NP_001394534.1:p.Gln1111fs frameshift NM_001407610.1:c.3328del NP_001394539.1:p.Gln1110fs frameshift NM_001407611.1:c.3328del NP_001394540.1:p.Gln1110fs frameshift NM_001407612.1:c.3328del NP_001394541.1:p.Gln1110fs frameshift NM_001407613.1:c.3328del NP_001394542.1:p.Gln1110fs frameshift NM_001407614.1:c.3328del NP_001394543.1:p.Gln1110fs frameshift NM_001407615.1:c.3328del NP_001394544.1:p.Gln1110fs frameshift NM_001407616.1:c.3331del NP_001394545.1:p.Gln1111fs frameshift NM_001407617.1:c.3331del NP_001394546.1:p.Gln1111fs frameshift NM_001407618.1:c.3331del NP_001394547.1:p.Gln1111fs frameshift NM_001407619.1:c.3331del NP_001394548.1:p.Gln1111fs frameshift NM_001407620.1:c.3331del NP_001394549.1:p.Gln1111fs frameshift NM_001407621.1:c.3331del NP_001394550.1:p.Gln1111fs frameshift NM_001407622.1:c.3331del NP_001394551.1:p.Gln1111fs frameshift NM_001407623.1:c.3331del NP_001394552.1:p.Gln1111fs frameshift NM_001407624.1:c.3331del NP_001394553.1:p.Gln1111fs frameshift NM_001407625.1:c.3331del NP_001394554.1:p.Gln1111fs frameshift NM_001407626.1:c.3331del NP_001394555.1:p.Gln1111fs frameshift NM_001407627.1:c.3328del NP_001394556.1:p.Gln1110fs frameshift NM_001407628.1:c.3328del NP_001394557.1:p.Gln1110fs frameshift NM_001407629.1:c.3328del NP_001394558.1:p.Gln1110fs frameshift NM_001407630.1:c.3328del NP_001394559.1:p.Gln1110fs frameshift NM_001407631.1:c.3328del NP_001394560.1:p.Gln1110fs frameshift NM_001407632.1:c.3328del NP_001394561.1:p.Gln1110fs frameshift NM_001407633.1:c.3328del NP_001394562.1:p.Gln1110fs frameshift NM_001407634.1:c.3328del NP_001394563.1:p.Gln1110fs frameshift NM_001407635.1:c.3328del NP_001394564.1:p.Gln1110fs frameshift NM_001407636.1:c.3328del NP_001394565.1:p.Gln1110fs frameshift NM_001407637.1:c.3328del NP_001394566.1:p.Gln1110fs frameshift NM_001407638.1:c.3328del NP_001394567.1:p.Gln1110fs frameshift NM_001407639.1:c.3331del NP_001394568.1:p.Gln1111fs frameshift NM_001407640.1:c.3331del NP_001394569.1:p.Gln1111fs frameshift NM_001407641.1:c.3331del NP_001394570.1:p.Gln1111fs frameshift NM_001407642.1:c.3331del NP_001394571.1:p.Gln1111fs frameshift NM_001407644.1:c.3328del NP_001394573.1:p.Gln1110fs frameshift NM_001407645.1:c.3328del NP_001394574.1:p.Gln1110fs frameshift NM_001407646.1:c.3322del NP_001394575.1:p.Gln1108fs frameshift NM_001407647.1:c.3322del NP_001394576.1:p.Gln1108fs frameshift NM_001407648.1:c.3208del NP_001394577.1:p.Gln1070fs frameshift NM_001407649.1:c.3205del NP_001394578.1:p.Gln1069fs frameshift NM_001407652.1:c.3331del NP_001394581.1:p.Gln1111fs frameshift NM_001407653.1:c.3253del NP_001394582.1:p.Gln1085fs frameshift NM_001407654.1:c.3253del NP_001394583.1:p.Gln1085fs frameshift NM_001407655.1:c.3253del NP_001394584.1:p.Gln1085fs frameshift NM_001407656.1:c.3253del NP_001394585.1:p.Gln1085fs frameshift NM_001407657.1:c.3253del NP_001394586.1:p.Gln1085fs frameshift NM_001407658.1:c.3253del NP_001394587.1:p.Gln1085fs frameshift NM_001407659.1:c.3250del NP_001394588.1:p.Gln1084fs frameshift NM_001407660.1:c.3250del NP_001394589.1:p.Gln1084fs frameshift NM_001407661.1:c.3250del NP_001394590.1:p.Gln1084fs frameshift NM_001407662.1:c.3250del NP_001394591.1:p.Gln1084fs frameshift NM_001407663.1:c.3253del NP_001394592.1:p.Gln1085fs frameshift NM_001407664.1:c.3208del NP_001394593.1:p.Gln1070fs frameshift NM_001407665.1:c.3208del NP_001394594.1:p.Gln1070fs frameshift NM_001407666.1:c.3208del NP_001394595.1:p.Gln1070fs frameshift NM_001407667.1:c.3208del NP_001394596.1:p.Gln1070fs frameshift NM_001407668.1:c.3208del NP_001394597.1:p.Gln1070fs frameshift NM_001407669.1:c.3208del NP_001394598.1:p.Gln1070fs frameshift NM_001407670.1:c.3205del NP_001394599.1:p.Gln1069fs frameshift NM_001407671.1:c.3205del NP_001394600.1:p.Gln1069fs frameshift NM_001407672.1:c.3205del NP_001394601.1:p.Gln1069fs frameshift NM_001407673.1:c.3205del NP_001394602.1:p.Gln1069fs frameshift NM_001407674.1:c.3208del NP_001394603.1:p.Gln1070fs frameshift NM_001407675.1:c.3208del NP_001394604.1:p.Gln1070fs frameshift NM_001407676.1:c.3208del NP_001394605.1:p.Gln1070fs frameshift NM_001407677.1:c.3208del NP_001394606.1:p.Gln1070fs frameshift NM_001407678.1:c.3208del NP_001394607.1:p.Gln1070fs frameshift NM_001407679.1:c.3208del NP_001394608.1:p.Gln1070fs frameshift NM_001407680.1:c.3208del NP_001394609.1:p.Gln1070fs frameshift NM_001407681.1:c.3208del NP_001394610.1:p.Gln1070fs frameshift NM_001407682.1:c.3208del NP_001394611.1:p.Gln1070fs frameshift NM_001407683.1:c.3208del NP_001394612.1:p.Gln1070fs frameshift NM_001407684.1:c.3331del NP_001394613.1:p.Gln1111fs frameshift NM_001407685.1:c.3205del NP_001394614.1:p.Gln1069fs frameshift NM_001407686.1:c.3205del NP_001394615.1:p.Gln1069fs frameshift NM_001407687.1:c.3205del NP_001394616.1:p.Gln1069fs frameshift NM_001407688.1:c.3205del NP_001394617.1:p.Gln1069fs frameshift NM_001407689.1:c.3205del NP_001394618.1:p.Gln1069fs frameshift NM_001407690.1:c.3205del NP_001394619.1:p.Gln1069fs frameshift NM_001407691.1:c.3205del NP_001394620.1:p.Gln1069fs frameshift NM_001407692.1:c.3190del NP_001394621.1:p.Gln1064fs frameshift NM_001407694.1:c.3190del NP_001394623.1:p.Gln1064fs frameshift NM_001407695.1:c.3190del NP_001394624.1:p.Gln1064fs frameshift NM_001407696.1:c.3190del NP_001394625.1:p.Gln1064fs frameshift NM_001407697.1:c.3190del NP_001394626.1:p.Gln1064fs frameshift NM_001407698.1:c.3190del NP_001394627.1:p.Gln1064fs frameshift NM_001407724.1:c.3190del NP_001394653.1:p.Gln1064fs frameshift NM_001407725.1:c.3190del NP_001394654.1:p.Gln1064fs frameshift NM_001407726.1:c.3190del NP_001394655.1:p.Gln1064fs frameshift NM_001407727.1:c.3190del NP_001394656.1:p.Gln1064fs frameshift NM_001407728.1:c.3190del NP_001394657.1:p.Gln1064fs frameshift NM_001407729.1:c.3190del NP_001394658.1:p.Gln1064fs frameshift NM_001407730.1:c.3190del NP_001394659.1:p.Gln1064fs frameshift NM_001407731.1:c.3190del NP_001394660.1:p.Gln1064fs frameshift NM_001407732.1:c.3190del NP_001394661.1:p.Gln1064fs frameshift NM_001407733.1:c.3190del NP_001394662.1:p.Gln1064fs frameshift NM_001407734.1:c.3190del NP_001394663.1:p.Gln1064fs frameshift NM_001407735.1:c.3190del NP_001394664.1:p.Gln1064fs frameshift NM_001407736.1:c.3190del NP_001394665.1:p.Gln1064fs frameshift NM_001407737.1:c.3190del NP_001394666.1:p.Gln1064fs frameshift NM_001407738.1:c.3190del NP_001394667.1:p.Gln1064fs frameshift NM_001407739.1:c.3190del NP_001394668.1:p.Gln1064fs frameshift NM_001407740.1:c.3187del NP_001394669.1:p.Gln1063fs frameshift NM_001407741.1:c.3187del NP_001394670.1:p.Gln1063fs frameshift NM_001407742.1:c.3187del NP_001394671.1:p.Gln1063fs frameshift NM_001407743.1:c.3187del NP_001394672.1:p.Gln1063fs frameshift NM_001407744.1:c.3187del NP_001394673.1:p.Gln1063fs frameshift NM_001407745.1:c.3187del NP_001394674.1:p.Gln1063fs frameshift NM_001407746.1:c.3187del NP_001394675.1:p.Gln1063fs frameshift NM_001407747.1:c.3187del NP_001394676.1:p.Gln1063fs frameshift NM_001407748.1:c.3187del NP_001394677.1:p.Gln1063fs frameshift NM_001407749.1:c.3187del NP_001394678.1:p.Gln1063fs frameshift NM_001407750.1:c.3190del NP_001394679.1:p.Gln1064fs frameshift NM_001407751.1:c.3190del NP_001394680.1:p.Gln1064fs frameshift NM_001407752.1:c.3190del NP_001394681.1:p.Gln1064fs frameshift NM_001407838.1:c.3187del NP_001394767.1:p.Gln1063fs frameshift NM_001407839.1:c.3187del NP_001394768.1:p.Gln1063fs frameshift NM_001407841.1:c.3187del NP_001394770.1:p.Gln1063fs frameshift NM_001407842.1:c.3187del NP_001394771.1:p.Gln1063fs frameshift NM_001407843.1:c.3187del NP_001394772.1:p.Gln1063fs frameshift NM_001407844.1:c.3187del NP_001394773.1:p.Gln1063fs frameshift NM_001407845.1:c.3187del NP_001394774.1:p.Gln1063fs frameshift NM_001407846.1:c.3187del NP_001394775.1:p.Gln1063fs frameshift NM_001407847.1:c.3187del NP_001394776.1:p.Gln1063fs frameshift NM_001407848.1:c.3187del NP_001394777.1:p.Gln1063fs frameshift NM_001407849.1:c.3187del NP_001394778.1:p.Gln1063fs frameshift NM_001407850.1:c.3190del NP_001394779.1:p.Gln1064fs frameshift NM_001407851.1:c.3190del NP_001394780.1:p.Gln1064fs frameshift NM_001407852.1:c.3190del NP_001394781.1:p.Gln1064fs frameshift NM_001407853.1:c.3118del NP_001394782.1:p.Gln1040fs frameshift NM_001407854.1:c.3331del NP_001394783.1:p.Gln1111fs frameshift NM_001407858.1:c.3331del NP_001394787.1:p.Gln1111fs frameshift NM_001407859.1:c.3331del NP_001394788.1:p.Gln1111fs frameshift NM_001407860.1:c.3328del NP_001394789.1:p.Gln1110fs frameshift NM_001407861.1:c.3328del NP_001394790.1:p.Gln1110fs frameshift NM_001407862.1:c.3130del NP_001394791.1:p.Gln1044fs frameshift NM_001407863.1:c.3208del NP_001394792.1:p.Gln1070fs frameshift NM_001407874.1:c.3127del NP_001394803.1:p.Gln1043fs frameshift NM_001407875.1:c.3127del NP_001394804.1:p.Gln1043fs frameshift NM_001407879.1:c.3121del NP_001394808.1:p.Gln1041fs frameshift NM_001407881.1:c.3121del NP_001394810.1:p.Gln1041fs frameshift NM_001407882.1:c.3121del NP_001394811.1:p.Gln1041fs frameshift NM_001407884.1:c.3121del NP_001394813.1:p.Gln1041fs frameshift NM_001407885.1:c.3121del NP_001394814.1:p.Gln1041fs frameshift NM_001407886.1:c.3121del NP_001394815.1:p.Gln1041fs frameshift NM_001407887.1:c.3121del NP_001394816.1:p.Gln1041fs frameshift NM_001407889.1:c.3121del NP_001394818.1:p.Gln1041fs frameshift NM_001407894.1:c.3118del NP_001394823.1:p.Gln1040fs frameshift NM_001407895.1:c.3118del NP_001394824.1:p.Gln1040fs frameshift NM_001407896.1:c.3118del NP_001394825.1:p.Gln1040fs frameshift NM_001407897.1:c.3118del NP_001394826.1:p.Gln1040fs frameshift NM_001407898.1:c.3118del NP_001394827.1:p.Gln1040fs frameshift NM_001407899.1:c.3118del NP_001394828.1:p.Gln1040fs frameshift NM_001407900.1:c.3121del NP_001394829.1:p.Gln1041fs frameshift NM_001407902.1:c.3121del NP_001394831.1:p.Gln1041fs frameshift NM_001407904.1:c.3121del NP_001394833.1:p.Gln1041fs frameshift NM_001407906.1:c.3121del NP_001394835.1:p.Gln1041fs frameshift NM_001407907.1:c.3121del NP_001394836.1:p.Gln1041fs frameshift NM_001407908.1:c.3121del NP_001394837.1:p.Gln1041fs frameshift NM_001407909.1:c.3121del NP_001394838.1:p.Gln1041fs frameshift NM_001407910.1:c.3121del NP_001394839.1:p.Gln1041fs frameshift NM_001407915.1:c.3118del NP_001394844.1:p.Gln1040fs frameshift NM_001407916.1:c.3118del NP_001394845.1:p.Gln1040fs frameshift NM_001407917.1:c.3118del NP_001394846.1:p.Gln1040fs frameshift NM_001407918.1:c.3118del NP_001394847.1:p.Gln1040fs frameshift NM_001407919.1:c.3208del NP_001394848.1:p.Gln1070fs frameshift NM_001407920.1:c.3067del NP_001394849.1:p.Gln1023fs frameshift NM_001407921.1:c.3067del NP_001394850.1:p.Gln1023fs frameshift NM_001407922.1:c.3067del NP_001394851.1:p.Gln1023fs frameshift NM_001407923.1:c.3067del NP_001394852.1:p.Gln1023fs frameshift NM_001407924.1:c.3067del NP_001394853.1:p.Gln1023fs frameshift NM_001407925.1:c.3067del NP_001394854.1:p.Gln1023fs frameshift NM_001407926.1:c.3067del NP_001394855.1:p.Gln1023fs frameshift NM_001407927.1:c.3067del NP_001394856.1:p.Gln1023fs frameshift NM_001407928.1:c.3067del NP_001394857.1:p.Gln1023fs frameshift NM_001407929.1:c.3067del NP_001394858.1:p.Gln1023fs frameshift NM_001407930.1:c.3064del NP_001394859.1:p.Gln1022fs frameshift NM_001407931.1:c.3064del NP_001394860.1:p.Gln1022fs frameshift NM_001407932.1:c.3064del NP_001394861.1:p.Gln1022fs frameshift NM_001407933.1:c.3067del NP_001394862.1:p.Gln1023fs frameshift NM_001407934.1:c.3064del NP_001394863.1:p.Gln1022fs frameshift NM_001407935.1:c.3067del NP_001394864.1:p.Gln1023fs frameshift NM_001407936.1:c.3064del NP_001394865.1:p.Gln1022fs frameshift NM_001407937.1:c.3208del NP_001394866.1:p.Gln1070fs frameshift NM_001407938.1:c.3208del NP_001394867.1:p.Gln1070fs frameshift NM_001407939.1:c.3208del NP_001394868.1:p.Gln1070fs frameshift NM_001407940.1:c.3205del NP_001394869.1:p.Gln1069fs frameshift NM_001407941.1:c.3205del NP_001394870.1:p.Gln1069fs frameshift NM_001407942.1:c.3190del NP_001394871.1:p.Gln1064fs frameshift NM_001407943.1:c.3187del NP_001394872.1:p.Gln1063fs frameshift NM_001407944.1:c.3190del NP_001394873.1:p.Gln1064fs frameshift NM_001407945.1:c.3190del NP_001394874.1:p.Gln1064fs frameshift NM_001407946.1:c.2998del NP_001394875.1:p.Gln1000fs frameshift NM_001407947.1:c.2998del NP_001394876.1:p.Gln1000fs frameshift NM_001407948.1:c.2998del NP_001394877.1:p.Gln1000fs frameshift NM_001407949.1:c.2998del NP_001394878.1:p.Gln1000fs frameshift NM_001407950.1:c.2998del NP_001394879.1:p.Gln1000fs frameshift NM_001407951.1:c.2998del NP_001394880.1:p.Gln1000fs frameshift NM_001407952.1:c.2998del NP_001394881.1:p.Gln1000fs frameshift NM_001407953.1:c.2998del NP_001394882.1:p.Gln1000fs frameshift NM_001407954.1:c.2995del NP_001394883.1:p.Gln999fs frameshift NM_001407955.1:c.2995del NP_001394884.1:p.Gln999fs frameshift NM_001407956.1:c.2995del NP_001394885.1:p.Gln999fs frameshift NM_001407957.1:c.2998del NP_001394886.1:p.Gln1000fs frameshift NM_001407958.1:c.2995del NP_001394887.1:p.Gln999fs frameshift NM_001407959.1:c.2950del NP_001394888.1:p.Gln984fs frameshift NM_001407960.1:c.2950del NP_001394889.1:p.Gln984fs frameshift NM_001407962.1:c.2947del NP_001394891.1:p.Gln983fs frameshift NM_001407963.1:c.2950del NP_001394892.1:p.Gln984fs frameshift NM_001407964.1:c.3187del NP_001394893.1:p.Gln1063fs frameshift NM_001407965.1:c.2827del NP_001394894.1:p.Gln943fs frameshift NM_001407966.1:c.2443del NP_001394895.1:p.Gln815fs frameshift NM_001407967.1:c.2443del NP_001394896.1:p.Gln815fs frameshift NM_001407968.1:c.788-61del intron variant NM_001407969.1:c.788-61del intron variant NM_001407970.1:c.788-1168del intron variant NM_001407971.1:c.788-1168del intron variant NM_001407972.1:c.785-1168del intron variant NM_001407973.1:c.788-1168del intron variant NM_001407974.1:c.788-1168del intron variant NM_001407975.1:c.788-1168del intron variant NM_001407976.1:c.788-1168del intron variant NM_001407977.1:c.788-1168del intron variant NM_001407978.1:c.788-1168del intron variant NM_001407979.1:c.788-1168del intron variant NM_001407980.1:c.788-1168del intron variant NM_001407981.1:c.788-1168del intron variant NM_001407982.1:c.788-1168del intron variant NM_001407983.1:c.788-1168del intron variant NM_001407984.1:c.785-1168del intron variant NM_001407985.1:c.785-1168del intron variant NM_001407986.1:c.785-1168del intron variant NM_001407990.1:c.788-1168del intron variant NM_001407991.1:c.785-1168del intron variant NM_001407992.1:c.785-1168del intron variant NM_001407993.1:c.788-1168del intron variant NM_001408392.1:c.785-1168del intron variant NM_001408396.1:c.785-1168del intron variant NM_001408397.1:c.785-1168del intron variant NM_001408398.1:c.785-1168del intron variant NM_001408399.1:c.785-1168del intron variant NM_001408400.1:c.785-1168del intron variant NM_001408401.1:c.785-1168del intron variant NM_001408402.1:c.785-1168del intron variant NM_001408403.1:c.788-1168del intron variant NM_001408404.1:c.788-1168del intron variant NM_001408406.1:c.791-1177del intron variant NM_001408407.1:c.785-1168del intron variant NM_001408408.1:c.779-1168del intron variant NM_001408409.1:c.710-1168del intron variant NM_001408410.1:c.647-1168del intron variant NM_001408411.1:c.710-1168del intron variant NM_001408412.1:c.710-1168del intron variant NM_001408413.1:c.707-1168del intron variant NM_001408414.1:c.710-1168del intron variant NM_001408415.1:c.710-1168del intron variant NM_001408416.1:c.707-1168del intron variant NM_001408418.1:c.671-1168del intron variant NM_001408419.1:c.671-1168del intron variant NM_001408420.1:c.671-1168del intron variant NM_001408421.1:c.668-1168del intron variant NM_001408422.1:c.671-1168del intron variant NM_001408423.1:c.671-1168del intron variant NM_001408424.1:c.668-1168del intron variant NM_001408425.1:c.665-1168del intron variant NM_001408426.1:c.665-1168del intron variant NM_001408427.1:c.665-1168del intron variant NM_001408428.1:c.665-1168del intron variant NM_001408429.1:c.665-1168del intron variant NM_001408430.1:c.665-1168del intron variant NM_001408431.1:c.668-1168del intron variant NM_001408432.1:c.662-1168del intron variant NM_001408433.1:c.662-1168del intron variant NM_001408434.1:c.662-1168del intron variant NM_001408435.1:c.662-1168del intron variant NM_001408436.1:c.665-1168del intron variant NM_001408437.1:c.665-1168del intron variant NM_001408438.1:c.665-1168del intron variant NM_001408439.1:c.665-1168del intron variant NM_001408440.1:c.665-1168del intron variant NM_001408441.1:c.665-1168del intron variant NM_001408442.1:c.665-1168del intron variant NM_001408443.1:c.665-1168del intron variant NM_001408444.1:c.665-1168del intron variant NM_001408445.1:c.662-1168del intron variant NM_001408446.1:c.662-1168del intron variant NM_001408447.1:c.662-1168del intron variant NM_001408448.1:c.662-1168del intron variant NM_001408450.1:c.662-1168del intron variant NM_001408451.1:c.653-1168del intron variant NM_001408452.1:c.647-1168del intron variant NM_001408453.1:c.647-1168del intron variant NM_001408454.1:c.647-1168del intron variant NM_001408455.1:c.647-1168del intron variant NM_001408456.1:c.647-1168del intron variant NM_001408457.1:c.647-1168del intron variant NM_001408458.1:c.647-1168del intron variant NM_001408459.1:c.647-1168del intron variant NM_001408460.1:c.647-1168del intron variant NM_001408461.1:c.647-1168del intron variant NM_001408462.1:c.644-1168del intron variant NM_001408463.1:c.644-1168del intron variant NM_001408464.1:c.644-1168del intron variant NM_001408465.1:c.644-1168del intron variant NM_001408466.1:c.647-1168del intron variant NM_001408467.1:c.647-1168del intron variant NM_001408468.1:c.644-1168del intron variant NM_001408469.1:c.647-1168del intron variant NM_001408470.1:c.644-1168del intron variant NM_001408472.1:c.788-1168del intron variant NM_001408473.1:c.785-1168del intron variant NM_001408474.1:c.587-1168del intron variant NM_001408475.1:c.584-1168del intron variant NM_001408476.1:c.587-1168del intron variant NM_001408478.1:c.578-1168del intron variant NM_001408479.1:c.578-1168del intron variant NM_001408480.1:c.578-1168del intron variant NM_001408481.1:c.578-1168del intron variant NM_001408482.1:c.578-1168del intron variant NM_001408483.1:c.578-1168del intron variant NM_001408484.1:c.578-1168del intron variant NM_001408485.1:c.578-1168del intron variant NM_001408489.1:c.578-1168del intron variant NM_001408490.1:c.575-1168del intron variant NM_001408491.1:c.575-1168del intron variant NM_001408492.1:c.578-1168del intron variant NM_001408493.1:c.575-1168del intron variant NM_001408494.1:c.548-1168del intron variant NM_001408495.1:c.545-1168del intron variant NM_001408496.1:c.524-1168del intron variant NM_001408497.1:c.524-1168del intron variant NM_001408498.1:c.524-1168del intron variant NM_001408499.1:c.524-1168del intron variant NM_001408500.1:c.524-1168del intron variant NM_001408501.1:c.524-1168del intron variant NM_001408502.1:c.455-1168del intron variant NM_001408503.1:c.521-1168del intron variant NM_001408504.1:c.521-1168del intron variant NM_001408505.1:c.521-1168del intron variant NM_001408506.1:c.461-1168del intron variant NM_001408507.1:c.461-1168del intron variant NM_001408508.1:c.452-1168del intron variant NM_001408509.1:c.452-1168del intron variant NM_001408510.1:c.407-1168del intron variant NM_001408511.1:c.404-1168del intron variant NM_001408512.1:c.284-1168del intron variant NM_001408513.1:c.578-1168del intron variant NM_001408514.1:c.578-1168del intron variant NM_007294.3:c.3331delC NP_009225.1:p.Gln1111Lysfs frameshift NM_007297.4:c.3190del NP_009228.2:p.Gln1064fs frameshift NM_007298.4:c.788-1168del intron variant NM_007299.4:c.788-1168del intron variant NM_007300.4:c.3331del NP_009231.2:p.Gln1111fs frameshift NR_027676.1:n.3467delC NC_000017.11:g.43092200del NC_000017.10:g.41244217del NG_005905.2:g.125784del NG_087068.1:g.1182del LRG_292:g.125784del LRG_292t1:c.3331del LRG_292p1:p.Gln1111fs - Protein change
- Q1111fs, Q1064fs, Q1023fs, Q1108fs, Q1110fs, Q999fs, Q1022fs, Q1044fs, Q1069fs, Q983fs, Q1000fs, Q1040fs, Q1070fs, Q1085fs, Q815fs, Q943fs, Q1041fs, Q1043fs, Q1063fs, Q1084fs, Q984fs
- Other names
- 3450delC-ter1116
- Canonical SPDI
- NC_000017.11:43092199:G:
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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 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
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 | RCV000256796.13 |
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: SCV000323592.2
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 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: SCV000325619.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040116 ...
HelpRecord last updated Oct 13, 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.