Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3999del (p.Gly1334fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Dec 2017 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3999del (p.Gly1334fs)
Variation ID: 55070 Accession: VCV000055070.11
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43091532 (GRCh38) [ NCBI UCSC ] 17: 41243549 (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 Jan 25, 2018 Feb 14, 2024 Dec 15, 2017 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3999del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1334fs frameshift NM_001407571.1:c.3786del NP_001394500.1:p.Gly1263fs frameshift NM_001407581.1:c.3999del NP_001394510.1:p.Gly1334fs frameshift NM_001407582.1:c.3999del NP_001394511.1:p.Gly1334fs frameshift NM_001407583.1:c.3999del NP_001394512.1:p.Gly1334fs frameshift NM_001407585.1:c.3999del NP_001394514.1:p.Gly1334fs frameshift NM_001407587.1:c.3996del NP_001394516.1:p.Gly1333fs frameshift NM_001407590.1:c.3996del NP_001394519.1:p.Gly1333fs frameshift NM_001407591.1:c.3996del NP_001394520.1:p.Gly1333fs frameshift NM_001407593.1:c.3999del NP_001394522.1:p.Gly1334fs frameshift NM_001407594.1:c.3999del NP_001394523.1:p.Gly1334fs frameshift NM_001407596.1:c.3999del NP_001394525.1:p.Gly1334fs frameshift NM_001407597.1:c.3999del NP_001394526.1:p.Gly1334fs frameshift NM_001407598.1:c.3999del NP_001394527.1:p.Gly1334fs frameshift NM_001407602.1:c.3999del NP_001394531.1:p.Gly1334fs frameshift NM_001407603.1:c.3999del NP_001394532.1:p.Gly1334fs frameshift NM_001407605.1:c.3999del NP_001394534.1:p.Gly1334fs frameshift NM_001407610.1:c.3996del NP_001394539.1:p.Gly1333fs frameshift NM_001407611.1:c.3996del NP_001394540.1:p.Gly1333fs frameshift NM_001407612.1:c.3996del NP_001394541.1:p.Gly1333fs frameshift NM_001407613.1:c.3996del NP_001394542.1:p.Gly1333fs frameshift NM_001407614.1:c.3996del NP_001394543.1:p.Gly1333fs frameshift NM_001407615.1:c.3996del NP_001394544.1:p.Gly1333fs frameshift NM_001407616.1:c.3999del NP_001394545.1:p.Gly1334fs frameshift NM_001407617.1:c.3999del NP_001394546.1:p.Gly1334fs frameshift NM_001407618.1:c.3999del NP_001394547.1:p.Gly1334fs frameshift NM_001407619.1:c.3999del NP_001394548.1:p.Gly1334fs frameshift NM_001407620.1:c.3999del NP_001394549.1:p.Gly1334fs frameshift NM_001407621.1:c.3999del NP_001394550.1:p.Gly1334fs frameshift NM_001407622.1:c.3999del NP_001394551.1:p.Gly1334fs frameshift NM_001407623.1:c.3999del NP_001394552.1:p.Gly1334fs frameshift NM_001407624.1:c.3999del NP_001394553.1:p.Gly1334fs frameshift NM_001407625.1:c.3999del NP_001394554.1:p.Gly1334fs frameshift NM_001407626.1:c.3999del NP_001394555.1:p.Gly1334fs frameshift NM_001407627.1:c.3996del NP_001394556.1:p.Gly1333fs frameshift NM_001407628.1:c.3996del NP_001394557.1:p.Gly1333fs frameshift NM_001407629.1:c.3996del NP_001394558.1:p.Gly1333fs frameshift NM_001407630.1:c.3996del NP_001394559.1:p.Gly1333fs frameshift NM_001407631.1:c.3996del NP_001394560.1:p.Gly1333fs frameshift NM_001407632.1:c.3996del NP_001394561.1:p.Gly1333fs frameshift NM_001407633.1:c.3996del NP_001394562.1:p.Gly1333fs frameshift NM_001407634.1:c.3996del NP_001394563.1:p.Gly1333fs frameshift NM_001407635.1:c.3996del NP_001394564.1:p.Gly1333fs frameshift NM_001407636.1:c.3996del NP_001394565.1:p.Gly1333fs frameshift NM_001407637.1:c.3996del NP_001394566.1:p.Gly1333fs frameshift NM_001407638.1:c.3996del NP_001394567.1:p.Gly1333fs frameshift NM_001407639.1:c.3999del NP_001394568.1:p.Gly1334fs frameshift NM_001407640.1:c.3999del NP_001394569.1:p.Gly1334fs frameshift NM_001407641.1:c.3999del NP_001394570.1:p.Gly1334fs frameshift NM_001407642.1:c.3999del NP_001394571.1:p.Gly1334fs frameshift NM_001407644.1:c.3996del NP_001394573.1:p.Gly1333fs frameshift NM_001407645.1:c.3996del NP_001394574.1:p.Gly1333fs frameshift NM_001407646.1:c.3990del NP_001394575.1:p.Gly1331fs frameshift NM_001407647.1:c.3990del NP_001394576.1:p.Gly1331fs frameshift NM_001407648.1:c.3876del NP_001394577.1:p.Gly1293fs frameshift NM_001407649.1:c.3873del NP_001394578.1:p.Gly1292fs frameshift NM_001407652.1:c.3999del NP_001394581.1:p.Gly1334fs frameshift NM_001407653.1:c.3921del NP_001394582.1:p.Gly1308fs frameshift NM_001407654.1:c.3921del NP_001394583.1:p.Gly1308fs frameshift NM_001407655.1:c.3921del NP_001394584.1:p.Gly1308fs frameshift NM_001407656.1:c.3921del NP_001394585.1:p.Gly1308fs frameshift NM_001407657.1:c.3921del NP_001394586.1:p.Gly1308fs frameshift NM_001407658.1:c.3921del NP_001394587.1:p.Gly1308fs frameshift NM_001407659.1:c.3918del NP_001394588.1:p.Gly1307fs frameshift NM_001407660.1:c.3918del NP_001394589.1:p.Gly1307fs frameshift NM_001407661.1:c.3918del NP_001394590.1:p.Gly1307fs frameshift NM_001407662.1:c.3918del NP_001394591.1:p.Gly1307fs frameshift NM_001407663.1:c.3921del NP_001394592.1:p.Gly1308fs frameshift NM_001407664.1:c.3876del NP_001394593.1:p.Gly1293fs frameshift NM_001407665.1:c.3876del NP_001394594.1:p.Gly1293fs frameshift NM_001407666.1:c.3876del NP_001394595.1:p.Gly1293fs frameshift NM_001407667.1:c.3876del NP_001394596.1:p.Gly1293fs frameshift NM_001407668.1:c.3876del NP_001394597.1:p.Gly1293fs frameshift NM_001407669.1:c.3876del NP_001394598.1:p.Gly1293fs frameshift NM_001407670.1:c.3873del NP_001394599.1:p.Gly1292fs frameshift NM_001407671.1:c.3873del NP_001394600.1:p.Gly1292fs frameshift NM_001407672.1:c.3873del NP_001394601.1:p.Gly1292fs frameshift NM_001407673.1:c.3873del NP_001394602.1:p.Gly1292fs frameshift NM_001407674.1:c.3876del NP_001394603.1:p.Gly1293fs frameshift NM_001407675.1:c.3876del NP_001394604.1:p.Gly1293fs frameshift NM_001407676.1:c.3876del NP_001394605.1:p.Gly1293fs frameshift NM_001407677.1:c.3876del NP_001394606.1:p.Gly1293fs frameshift NM_001407678.1:c.3876del NP_001394607.1:p.Gly1293fs frameshift NM_001407679.1:c.3876del NP_001394608.1:p.Gly1293fs frameshift NM_001407680.1:c.3876del NP_001394609.1:p.Gly1293fs frameshift NM_001407681.1:c.3876del NP_001394610.1:p.Gly1293fs frameshift NM_001407682.1:c.3876del NP_001394611.1:p.Gly1293fs frameshift NM_001407683.1:c.3876del NP_001394612.1:p.Gly1293fs frameshift NM_001407684.1:c.3999del NP_001394613.1:p.Gly1334fs frameshift NM_001407685.1:c.3873del NP_001394614.1:p.Gly1292fs frameshift NM_001407686.1:c.3873del NP_001394615.1:p.Gly1292fs frameshift NM_001407687.1:c.3873del NP_001394616.1:p.Gly1292fs frameshift NM_001407688.1:c.3873del NP_001394617.1:p.Gly1292fs frameshift NM_001407689.1:c.3873del NP_001394618.1:p.Gly1292fs frameshift NM_001407690.1:c.3873del NP_001394619.1:p.Gly1292fs frameshift NM_001407691.1:c.3873del NP_001394620.1:p.Gly1292fs frameshift NM_001407692.1:c.3858del NP_001394621.1:p.Gly1287fs frameshift NM_001407694.1:c.3858del NP_001394623.1:p.Gly1287fs frameshift NM_001407695.1:c.3858del NP_001394624.1:p.Gly1287fs frameshift NM_001407696.1:c.3858del NP_001394625.1:p.Gly1287fs frameshift NM_001407697.1:c.3858del NP_001394626.1:p.Gly1287fs frameshift NM_001407698.1:c.3858del NP_001394627.1:p.Gly1287fs frameshift NM_001407724.1:c.3858del NP_001394653.1:p.Gly1287fs frameshift NM_001407725.1:c.3858del NP_001394654.1:p.Gly1287fs frameshift NM_001407726.1:c.3858del NP_001394655.1:p.Gly1287fs frameshift NM_001407727.1:c.3858del NP_001394656.1:p.Gly1287fs frameshift NM_001407728.1:c.3858del NP_001394657.1:p.Gly1287fs frameshift NM_001407729.1:c.3858del NP_001394658.1:p.Gly1287fs frameshift NM_001407730.1:c.3858del NP_001394659.1:p.Gly1287fs frameshift NM_001407731.1:c.3858del NP_001394660.1:p.Gly1287fs frameshift NM_001407732.1:c.3858del NP_001394661.1:p.Gly1287fs frameshift NM_001407733.1:c.3858del NP_001394662.1:p.Gly1287fs frameshift NM_001407734.1:c.3858del NP_001394663.1:p.Gly1287fs frameshift NM_001407735.1:c.3858del NP_001394664.1:p.Gly1287fs frameshift NM_001407736.1:c.3858del NP_001394665.1:p.Gly1287fs frameshift NM_001407737.1:c.3858del NP_001394666.1:p.Gly1287fs frameshift NM_001407738.1:c.3858del NP_001394667.1:p.Gly1287fs frameshift NM_001407739.1:c.3858del NP_001394668.1:p.Gly1287fs frameshift NM_001407740.1:c.3855del NP_001394669.1:p.Gly1286fs frameshift NM_001407741.1:c.3855del NP_001394670.1:p.Gly1286fs frameshift NM_001407742.1:c.3855del NP_001394671.1:p.Gly1286fs frameshift NM_001407743.1:c.3855del NP_001394672.1:p.Gly1286fs frameshift NM_001407744.1:c.3855del NP_001394673.1:p.Gly1286fs frameshift NM_001407745.1:c.3855del NP_001394674.1:p.Gly1286fs frameshift NM_001407746.1:c.3855del NP_001394675.1:p.Gly1286fs frameshift NM_001407747.1:c.3855del NP_001394676.1:p.Gly1286fs frameshift NM_001407748.1:c.3855del NP_001394677.1:p.Gly1286fs frameshift NM_001407749.1:c.3855del NP_001394678.1:p.Gly1286fs frameshift NM_001407750.1:c.3858del NP_001394679.1:p.Gly1287fs frameshift NM_001407751.1:c.3858del NP_001394680.1:p.Gly1287fs frameshift NM_001407752.1:c.3858del NP_001394681.1:p.Gly1287fs frameshift NM_001407838.1:c.3855del NP_001394767.1:p.Gly1286fs frameshift NM_001407839.1:c.3855del NP_001394768.1:p.Gly1286fs frameshift NM_001407841.1:c.3855del NP_001394770.1:p.Gly1286fs frameshift NM_001407842.1:c.3855del NP_001394771.1:p.Gly1286fs frameshift NM_001407843.1:c.3855del NP_001394772.1:p.Gly1286fs frameshift NM_001407844.1:c.3855del NP_001394773.1:p.Gly1286fs frameshift NM_001407845.1:c.3855del NP_001394774.1:p.Gly1286fs frameshift NM_001407846.1:c.3855del NP_001394775.1:p.Gly1286fs frameshift NM_001407847.1:c.3855del NP_001394776.1:p.Gly1286fs frameshift NM_001407848.1:c.3855del NP_001394777.1:p.Gly1286fs frameshift NM_001407849.1:c.3855del NP_001394778.1:p.Gly1286fs frameshift NM_001407850.1:c.3858del NP_001394779.1:p.Gly1287fs frameshift NM_001407851.1:c.3858del NP_001394780.1:p.Gly1287fs frameshift NM_001407852.1:c.3858del NP_001394781.1:p.Gly1287fs frameshift NM_001407853.1:c.3786del NP_001394782.1:p.Gly1263fs frameshift NM_001407854.1:c.3999del NP_001394783.1:p.Gly1334fs frameshift NM_001407858.1:c.3999del NP_001394787.1:p.Gly1334fs frameshift NM_001407859.1:c.3999del NP_001394788.1:p.Gly1334fs frameshift NM_001407860.1:c.3996del NP_001394789.1:p.Gly1333fs frameshift NM_001407861.1:c.3996del NP_001394790.1:p.Gly1333fs frameshift NM_001407862.1:c.3798del NP_001394791.1:p.Gly1267fs frameshift NM_001407863.1:c.3876del NP_001394792.1:p.Gly1293fs frameshift NM_001407874.1:c.3795del NP_001394803.1:p.Gly1266fs frameshift NM_001407875.1:c.3795del NP_001394804.1:p.Gly1266fs frameshift NM_001407879.1:c.3789del NP_001394808.1:p.Gly1264fs frameshift NM_001407881.1:c.3789del NP_001394810.1:p.Gly1264fs frameshift NM_001407882.1:c.3789del NP_001394811.1:p.Gly1264fs frameshift NM_001407884.1:c.3789del NP_001394813.1:p.Gly1264fs frameshift NM_001407885.1:c.3789del NP_001394814.1:p.Gly1264fs frameshift NM_001407886.1:c.3789del NP_001394815.1:p.Gly1264fs frameshift NM_001407887.1:c.3789del NP_001394816.1:p.Gly1264fs frameshift NM_001407889.1:c.3789del NP_001394818.1:p.Gly1264fs frameshift NM_001407894.1:c.3786del NP_001394823.1:p.Gly1263fs frameshift NM_001407895.1:c.3786del NP_001394824.1:p.Gly1263fs frameshift NM_001407896.1:c.3786del NP_001394825.1:p.Gly1263fs frameshift NM_001407897.1:c.3786del NP_001394826.1:p.Gly1263fs frameshift NM_001407898.1:c.3786del NP_001394827.1:p.Gly1263fs frameshift NM_001407899.1:c.3786del NP_001394828.1:p.Gly1263fs frameshift NM_001407900.1:c.3789del NP_001394829.1:p.Gly1264fs frameshift NM_001407902.1:c.3789del NP_001394831.1:p.Gly1264fs frameshift NM_001407904.1:c.3789del NP_001394833.1:p.Gly1264fs frameshift NM_001407906.1:c.3789del NP_001394835.1:p.Gly1264fs frameshift NM_001407907.1:c.3789del NP_001394836.1:p.Gly1264fs frameshift NM_001407908.1:c.3789del NP_001394837.1:p.Gly1264fs frameshift NM_001407909.1:c.3789del NP_001394838.1:p.Gly1264fs frameshift NM_001407910.1:c.3789del NP_001394839.1:p.Gly1264fs frameshift NM_001407915.1:c.3786del NP_001394844.1:p.Gly1263fs frameshift NM_001407916.1:c.3786del NP_001394845.1:p.Gly1263fs frameshift NM_001407917.1:c.3786del NP_001394846.1:p.Gly1263fs frameshift NM_001407918.1:c.3786del NP_001394847.1:p.Gly1263fs frameshift NM_001407919.1:c.3876del NP_001394848.1:p.Gly1293fs frameshift NM_001407920.1:c.3735del NP_001394849.1:p.Gly1246fs frameshift NM_001407921.1:c.3735del NP_001394850.1:p.Gly1246fs frameshift NM_001407922.1:c.3735del NP_001394851.1:p.Gly1246fs frameshift NM_001407923.1:c.3735del NP_001394852.1:p.Gly1246fs frameshift NM_001407924.1:c.3735del NP_001394853.1:p.Gly1246fs frameshift NM_001407925.1:c.3735del NP_001394854.1:p.Gly1246fs frameshift NM_001407926.1:c.3735del NP_001394855.1:p.Gly1246fs frameshift NM_001407927.1:c.3735del NP_001394856.1:p.Gly1246fs frameshift NM_001407928.1:c.3735del NP_001394857.1:p.Gly1246fs frameshift NM_001407929.1:c.3735del NP_001394858.1:p.Gly1246fs frameshift NM_001407930.1:c.3732del NP_001394859.1:p.Gly1245fs frameshift NM_001407931.1:c.3732del NP_001394860.1:p.Gly1245fs frameshift NM_001407932.1:c.3732del NP_001394861.1:p.Gly1245fs frameshift NM_001407933.1:c.3735del NP_001394862.1:p.Gly1246fs frameshift NM_001407934.1:c.3732del NP_001394863.1:p.Gly1245fs frameshift NM_001407935.1:c.3735del NP_001394864.1:p.Gly1246fs frameshift NM_001407936.1:c.3732del NP_001394865.1:p.Gly1245fs frameshift NM_001407937.1:c.3876del NP_001394866.1:p.Gly1293fs frameshift NM_001407938.1:c.3876del NP_001394867.1:p.Gly1293fs frameshift NM_001407939.1:c.3876del NP_001394868.1:p.Gly1293fs frameshift NM_001407940.1:c.3873del NP_001394869.1:p.Gly1292fs frameshift NM_001407941.1:c.3873del NP_001394870.1:p.Gly1292fs frameshift NM_001407942.1:c.3858del NP_001394871.1:p.Gly1287fs frameshift NM_001407943.1:c.3855del NP_001394872.1:p.Gly1286fs frameshift NM_001407944.1:c.3858del NP_001394873.1:p.Gly1287fs frameshift NM_001407945.1:c.3858del NP_001394874.1:p.Gly1287fs frameshift NM_001407946.1:c.3666del NP_001394875.1:p.Gly1223fs frameshift NM_001407947.1:c.3666del NP_001394876.1:p.Gly1223fs frameshift NM_001407948.1:c.3666del NP_001394877.1:p.Gly1223fs frameshift NM_001407949.1:c.3666del NP_001394878.1:p.Gly1223fs frameshift NM_001407950.1:c.3666del NP_001394879.1:p.Gly1223fs frameshift NM_001407951.1:c.3666del NP_001394880.1:p.Gly1223fs frameshift NM_001407952.1:c.3666del NP_001394881.1:p.Gly1223fs frameshift NM_001407953.1:c.3666del NP_001394882.1:p.Gly1223fs frameshift NM_001407954.1:c.3663del NP_001394883.1:p.Gly1222fs frameshift NM_001407955.1:c.3663del NP_001394884.1:p.Gly1222fs frameshift NM_001407956.1:c.3663del NP_001394885.1:p.Gly1222fs frameshift NM_001407957.1:c.3666del NP_001394886.1:p.Gly1223fs frameshift NM_001407958.1:c.3663del NP_001394887.1:p.Gly1222fs frameshift NM_001407959.1:c.3618del NP_001394888.1:p.Gly1207fs frameshift NM_001407960.1:c.3618del NP_001394889.1:p.Gly1207fs frameshift NM_001407962.1:c.3615del NP_001394891.1:p.Gly1206fs frameshift NM_001407963.1:c.3618del NP_001394892.1:p.Gly1207fs frameshift NM_001407964.1:c.3855del NP_001394893.1:p.Gly1286fs frameshift NM_001407965.1:c.3495del NP_001394894.1:p.Gly1166fs frameshift NM_001407966.1:c.3111del NP_001394895.1:p.Gly1038fs frameshift NM_001407967.1:c.3111del NP_001394896.1:p.Gly1038fs frameshift NM_001407968.1:c.1395del NP_001394897.1:p.Gly466fs frameshift NM_001407969.1:c.1395del NP_001394898.1:p.Gly466fs frameshift NM_001407970.1:c.788-500del intron variant NM_001407971.1:c.788-500del intron variant NM_001407972.1:c.785-500del intron variant NM_001407973.1:c.788-500del intron variant NM_001407974.1:c.788-500del intron variant NM_001407975.1:c.788-500del intron variant NM_001407976.1:c.788-500del intron variant NM_001407977.1:c.788-500del intron variant NM_001407978.1:c.788-500del intron variant NM_001407979.1:c.788-500del intron variant NM_001407980.1:c.788-500del intron variant NM_001407981.1:c.788-500del intron variant NM_001407982.1:c.788-500del intron variant NM_001407983.1:c.788-500del intron variant NM_001407984.1:c.785-500del intron variant NM_001407985.1:c.785-500del intron variant NM_001407986.1:c.785-500del intron variant NM_001407990.1:c.788-500del intron variant NM_001407991.1:c.785-500del intron variant NM_001407992.1:c.785-500del intron variant NM_001407993.1:c.788-500del intron variant NM_001408392.1:c.785-500del intron variant NM_001408396.1:c.785-500del intron variant NM_001408397.1:c.785-500del intron variant NM_001408398.1:c.785-500del intron variant NM_001408399.1:c.785-500del intron variant NM_001408400.1:c.785-500del intron variant NM_001408401.1:c.785-500del intron variant NM_001408402.1:c.785-500del intron variant NM_001408403.1:c.788-500del intron variant NM_001408404.1:c.788-500del intron variant NM_001408406.1:c.791-509del intron variant NM_001408407.1:c.785-500del intron variant NM_001408408.1:c.779-500del intron variant NM_001408409.1:c.710-500del intron variant NM_001408410.1:c.647-500del intron variant NM_001408411.1:c.710-500del intron variant NM_001408412.1:c.710-500del intron variant NM_001408413.1:c.707-500del intron variant NM_001408414.1:c.710-500del intron variant NM_001408415.1:c.710-500del intron variant NM_001408416.1:c.707-500del intron variant NM_001408418.1:c.671-500del intron variant NM_001408419.1:c.671-500del intron variant NM_001408420.1:c.671-500del intron variant NM_001408421.1:c.668-500del intron variant NM_001408422.1:c.671-500del intron variant NM_001408423.1:c.671-500del intron variant NM_001408424.1:c.668-500del intron variant NM_001408425.1:c.665-500del intron variant NM_001408426.1:c.665-500del intron variant NM_001408427.1:c.665-500del intron variant NM_001408428.1:c.665-500del intron variant NM_001408429.1:c.665-500del intron variant NM_001408430.1:c.665-500del intron variant NM_001408431.1:c.668-500del intron variant NM_001408432.1:c.662-500del intron variant NM_001408433.1:c.662-500del intron variant NM_001408434.1:c.662-500del intron variant NM_001408435.1:c.662-500del intron variant NM_001408436.1:c.665-500del intron variant NM_001408437.1:c.665-500del intron variant NM_001408438.1:c.665-500del intron variant NM_001408439.1:c.665-500del intron variant NM_001408440.1:c.665-500del intron variant NM_001408441.1:c.665-500del intron variant NM_001408442.1:c.665-500del intron variant NM_001408443.1:c.665-500del intron variant NM_001408444.1:c.665-500del intron variant NM_001408445.1:c.662-500del intron variant NM_001408446.1:c.662-500del intron variant NM_001408447.1:c.662-500del intron variant NM_001408448.1:c.662-500del intron variant NM_001408450.1:c.662-500del intron variant NM_001408451.1:c.653-500del intron variant NM_001408452.1:c.647-500del intron variant NM_001408453.1:c.647-500del intron variant NM_001408454.1:c.647-500del intron variant NM_001408455.1:c.647-500del intron variant NM_001408456.1:c.647-500del intron variant NM_001408457.1:c.647-500del intron variant NM_001408458.1:c.647-500del intron variant NM_001408459.1:c.647-500del intron variant NM_001408460.1:c.647-500del intron variant NM_001408461.1:c.647-500del intron variant NM_001408462.1:c.644-500del intron variant NM_001408463.1:c.644-500del intron variant NM_001408464.1:c.644-500del intron variant NM_001408465.1:c.644-500del intron variant NM_001408466.1:c.647-500del intron variant NM_001408467.1:c.647-500del intron variant NM_001408468.1:c.644-500del intron variant NM_001408469.1:c.647-500del intron variant NM_001408470.1:c.644-500del intron variant NM_001408472.1:c.788-500del intron variant NM_001408473.1:c.785-500del intron variant NM_001408474.1:c.587-500del intron variant NM_001408475.1:c.584-500del intron variant NM_001408476.1:c.587-500del intron variant NM_001408478.1:c.578-500del intron variant NM_001408479.1:c.578-500del intron variant NM_001408480.1:c.578-500del intron variant NM_001408481.1:c.578-500del intron variant NM_001408482.1:c.578-500del intron variant NM_001408483.1:c.578-500del intron variant NM_001408484.1:c.578-500del intron variant NM_001408485.1:c.578-500del intron variant NM_001408489.1:c.578-500del intron variant NM_001408490.1:c.575-500del intron variant NM_001408491.1:c.575-500del intron variant NM_001408492.1:c.578-500del intron variant NM_001408493.1:c.575-500del intron variant NM_001408494.1:c.548-500del intron variant NM_001408495.1:c.545-500del intron variant NM_001408496.1:c.524-500del intron variant NM_001408497.1:c.524-500del intron variant NM_001408498.1:c.524-500del intron variant NM_001408499.1:c.524-500del intron variant NM_001408500.1:c.524-500del intron variant NM_001408501.1:c.524-500del intron variant NM_001408502.1:c.455-500del intron variant NM_001408503.1:c.521-500del intron variant NM_001408504.1:c.521-500del intron variant NM_001408505.1:c.521-500del intron variant NM_001408506.1:c.461-500del intron variant NM_001408507.1:c.461-500del intron variant NM_001408508.1:c.452-500del intron variant NM_001408509.1:c.452-500del intron variant NM_001408510.1:c.407-500del intron variant NM_001408511.1:c.404-500del intron variant NM_001408512.1:c.284-500del intron variant NM_001408513.1:c.578-500del intron variant NM_001408514.1:c.578-500del intron variant NM_007294.3:c.3998delT NP_009225.1:p.Gly1334Valfs frameshift NM_007294.3:c.3999delT frameshift NM_007297.4:c.3858del NP_009228.2:p.Gly1287fs frameshift NM_007298.4:c.788-500del intron variant NM_007299.4:c.788-500del intron variant NM_007300.4:c.3999del NP_009231.2:p.Gly1334fs frameshift NR_027676.1:n.4134delT NC_000017.11:g.43091533del NC_000017.10:g.41243550del NG_005905.2:g.126452del NG_087068.1:g.515del LRG_292:g.126452del LRG_292t1:c.3999del LRG_292p1:p.Gly1334fs - Protein change
- G1287fs, G1334fs, G1038fs, G1207fs, G1222fs, G1245fs, G1293fs, G1331fs, G466fs, G1206fs, G1223fs, G1246fs, G1263fs, G1264fs, G1267fs, G1166fs, G1266fs, G1308fs, G1333fs, G1286fs, G1292fs, G1307fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091531:AA:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| 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. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
| 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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV000577525.9 | |
| Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661190.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 3, 2019 | RCV001060311.15 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Dec 15, 2017)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000783445.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Dec 03, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001224991.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024 |
Comment:
This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1334Valfs*2) in the BRCA1 gene. … (more)
This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1334Valfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual with breast cancer (PMID: 17333343). ClinVar contains an entry for this variant (Variation ID: 55070). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
|
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679265.1
First in ClinVar: Jan 25, 2018 Last updated: Jan 25, 2018 |
|
Comment:
Comment:
This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1334Valfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual with breast cancer (PMID: 17333343). ClinVar contains an entry for this variant (Variation ID: 55070). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1334Valfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual with breast cancer (PMID: 17333343). ClinVar contains an entry for this variant (Variation ID: 55070). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| 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 |
| BRCA1 and BRCA2 status in a Central Sudanese series of breast cancer patients: interactions with genetic, ethnic and reproductive factors. | Awadelkarim KD | Breast cancer research and treatment | 2007 | PMID: 17333343 |
Text-mined citations for rs397509125 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 10, 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.