Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4015dup (p.Glu1339fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 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.4015dup (p.Glu1339fs)
Variation ID: 254450 Accession: VCV000254450.4
- Type and length
-
Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091515-43091516 (GRCh38) [ NCBI UCSC ] 17: 41243532-41243533 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 25, 2016 Sep 25, 2016 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4015dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1339fs frameshift NM_001407571.1:c.3802dup NP_001394500.1:p.Glu1268fs frameshift NM_001407581.1:c.4015dup NP_001394510.1:p.Glu1339fs frameshift NM_001407582.1:c.4015dup NP_001394511.1:p.Glu1339fs frameshift NM_001407583.1:c.4015dup NP_001394512.1:p.Glu1339fs frameshift NM_001407585.1:c.4015dup NP_001394514.1:p.Glu1339fs frameshift NM_001407587.1:c.4012dup NP_001394516.1:p.Glu1338fs frameshift NM_001407590.1:c.4012dup NP_001394519.1:p.Glu1338fs frameshift NM_001407591.1:c.4012dup NP_001394520.1:p.Glu1338fs frameshift NM_001407593.1:c.4015dup NP_001394522.1:p.Glu1339fs frameshift NM_001407594.1:c.4015dup NP_001394523.1:p.Glu1339fs frameshift NM_001407596.1:c.4015dup NP_001394525.1:p.Glu1339fs frameshift NM_001407597.1:c.4015dup NP_001394526.1:p.Glu1339fs frameshift NM_001407598.1:c.4015dup NP_001394527.1:p.Glu1339fs frameshift NM_001407602.1:c.4015dup NP_001394531.1:p.Glu1339fs frameshift NM_001407603.1:c.4015dup NP_001394532.1:p.Glu1339fs frameshift NM_001407605.1:c.4015dup NP_001394534.1:p.Glu1339fs frameshift NM_001407610.1:c.4012dup NP_001394539.1:p.Glu1338fs frameshift NM_001407611.1:c.4012dup NP_001394540.1:p.Glu1338fs frameshift NM_001407612.1:c.4012dup NP_001394541.1:p.Glu1338fs frameshift NM_001407613.1:c.4012dup NP_001394542.1:p.Glu1338fs frameshift NM_001407614.1:c.4012dup NP_001394543.1:p.Glu1338fs frameshift NM_001407615.1:c.4012dup NP_001394544.1:p.Glu1338fs frameshift NM_001407616.1:c.4015dup NP_001394545.1:p.Glu1339fs frameshift NM_001407617.1:c.4015dup NP_001394546.1:p.Glu1339fs frameshift NM_001407618.1:c.4015dup NP_001394547.1:p.Glu1339fs frameshift NM_001407619.1:c.4015dup NP_001394548.1:p.Glu1339fs frameshift NM_001407620.1:c.4015dup NP_001394549.1:p.Glu1339fs frameshift NM_001407621.1:c.4015dup NP_001394550.1:p.Glu1339fs frameshift NM_001407622.1:c.4015dup NP_001394551.1:p.Glu1339fs frameshift NM_001407623.1:c.4015dup NP_001394552.1:p.Glu1339fs frameshift NM_001407624.1:c.4015dup NP_001394553.1:p.Glu1339fs frameshift NM_001407625.1:c.4015dup NP_001394554.1:p.Glu1339fs frameshift NM_001407626.1:c.4015dup NP_001394555.1:p.Glu1339fs frameshift NM_001407627.1:c.4012dup NP_001394556.1:p.Glu1338fs frameshift NM_001407628.1:c.4012dup NP_001394557.1:p.Glu1338fs frameshift NM_001407629.1:c.4012dup NP_001394558.1:p.Glu1338fs frameshift NM_001407630.1:c.4012dup NP_001394559.1:p.Glu1338fs frameshift NM_001407631.1:c.4012dup NP_001394560.1:p.Glu1338fs frameshift NM_001407632.1:c.4012dup NP_001394561.1:p.Glu1338fs frameshift NM_001407633.1:c.4012dup NP_001394562.1:p.Glu1338fs frameshift NM_001407634.1:c.4012dup NP_001394563.1:p.Glu1338fs frameshift NM_001407635.1:c.4012dup NP_001394564.1:p.Glu1338fs frameshift NM_001407636.1:c.4012dup NP_001394565.1:p.Glu1338fs frameshift NM_001407637.1:c.4012dup NP_001394566.1:p.Glu1338fs frameshift NM_001407638.1:c.4012dup NP_001394567.1:p.Glu1338fs frameshift NM_001407639.1:c.4015dup NP_001394568.1:p.Glu1339fs frameshift NM_001407640.1:c.4015dup NP_001394569.1:p.Glu1339fs frameshift NM_001407641.1:c.4015dup NP_001394570.1:p.Glu1339fs frameshift NM_001407642.1:c.4015dup NP_001394571.1:p.Glu1339fs frameshift NM_001407644.1:c.4012dup NP_001394573.1:p.Glu1338fs frameshift NM_001407645.1:c.4012dup NP_001394574.1:p.Glu1338fs frameshift NM_001407646.1:c.4006dup NP_001394575.1:p.Glu1336fs frameshift NM_001407647.1:c.4006dup NP_001394576.1:p.Glu1336fs frameshift NM_001407648.1:c.3892dup NP_001394577.1:p.Glu1298fs frameshift NM_001407649.1:c.3889dup NP_001394578.1:p.Glu1297fs frameshift NM_001407652.1:c.4015dup NP_001394581.1:p.Glu1339fs frameshift NM_001407653.1:c.3937dup NP_001394582.1:p.Glu1313fs frameshift NM_001407654.1:c.3937dup NP_001394583.1:p.Glu1313fs frameshift NM_001407655.1:c.3937dup NP_001394584.1:p.Glu1313fs frameshift NM_001407656.1:c.3937dup NP_001394585.1:p.Glu1313fs frameshift NM_001407657.1:c.3937dup NP_001394586.1:p.Glu1313fs frameshift NM_001407658.1:c.3937dup NP_001394587.1:p.Glu1313fs frameshift NM_001407659.1:c.3934dup NP_001394588.1:p.Glu1312fs frameshift NM_001407660.1:c.3934dup NP_001394589.1:p.Glu1312fs frameshift NM_001407661.1:c.3934dup NP_001394590.1:p.Glu1312fs frameshift NM_001407662.1:c.3934dup NP_001394591.1:p.Glu1312fs frameshift NM_001407663.1:c.3937dup NP_001394592.1:p.Glu1313fs frameshift NM_001407664.1:c.3892dup NP_001394593.1:p.Glu1298fs frameshift NM_001407665.1:c.3892dup NP_001394594.1:p.Glu1298fs frameshift NM_001407666.1:c.3892dup NP_001394595.1:p.Glu1298fs frameshift NM_001407667.1:c.3892dup NP_001394596.1:p.Glu1298fs frameshift NM_001407668.1:c.3892dup NP_001394597.1:p.Glu1298fs frameshift NM_001407669.1:c.3892dup NP_001394598.1:p.Glu1298fs frameshift NM_001407670.1:c.3889dup NP_001394599.1:p.Glu1297fs frameshift NM_001407671.1:c.3889dup NP_001394600.1:p.Glu1297fs frameshift NM_001407672.1:c.3889dup NP_001394601.1:p.Glu1297fs frameshift NM_001407673.1:c.3889dup NP_001394602.1:p.Glu1297fs frameshift NM_001407674.1:c.3892dup NP_001394603.1:p.Glu1298fs frameshift NM_001407675.1:c.3892dup NP_001394604.1:p.Glu1298fs frameshift NM_001407676.1:c.3892dup NP_001394605.1:p.Glu1298fs frameshift NM_001407677.1:c.3892dup NP_001394606.1:p.Glu1298fs frameshift NM_001407678.1:c.3892dup NP_001394607.1:p.Glu1298fs frameshift NM_001407679.1:c.3892dup NP_001394608.1:p.Glu1298fs frameshift NM_001407680.1:c.3892dup NP_001394609.1:p.Glu1298fs frameshift NM_001407681.1:c.3892dup NP_001394610.1:p.Glu1298fs frameshift NM_001407682.1:c.3892dup NP_001394611.1:p.Glu1298fs frameshift NM_001407683.1:c.3892dup NP_001394612.1:p.Glu1298fs frameshift NM_001407684.1:c.4015dup NP_001394613.1:p.Glu1339fs frameshift NM_001407685.1:c.3889dup NP_001394614.1:p.Glu1297fs frameshift NM_001407686.1:c.3889dup NP_001394615.1:p.Glu1297fs frameshift NM_001407687.1:c.3889dup NP_001394616.1:p.Glu1297fs frameshift NM_001407688.1:c.3889dup NP_001394617.1:p.Glu1297fs frameshift NM_001407689.1:c.3889dup NP_001394618.1:p.Glu1297fs frameshift NM_001407690.1:c.3889dup NP_001394619.1:p.Glu1297fs frameshift NM_001407691.1:c.3889dup NP_001394620.1:p.Glu1297fs frameshift NM_001407692.1:c.3874dup NP_001394621.1:p.Glu1292fs frameshift NM_001407694.1:c.3874dup NP_001394623.1:p.Glu1292fs frameshift NM_001407695.1:c.3874dup NP_001394624.1:p.Glu1292fs frameshift NM_001407696.1:c.3874dup NP_001394625.1:p.Glu1292fs frameshift NM_001407697.1:c.3874dup NP_001394626.1:p.Glu1292fs frameshift NM_001407698.1:c.3874dup NP_001394627.1:p.Glu1292fs frameshift NM_001407724.1:c.3874dup NP_001394653.1:p.Glu1292fs frameshift NM_001407725.1:c.3874dup NP_001394654.1:p.Glu1292fs frameshift NM_001407726.1:c.3874dup NP_001394655.1:p.Glu1292fs frameshift NM_001407727.1:c.3874dup NP_001394656.1:p.Glu1292fs frameshift NM_001407728.1:c.3874dup NP_001394657.1:p.Glu1292fs frameshift NM_001407729.1:c.3874dup NP_001394658.1:p.Glu1292fs frameshift NM_001407730.1:c.3874dup NP_001394659.1:p.Glu1292fs frameshift NM_001407731.1:c.3874dup NP_001394660.1:p.Glu1292fs frameshift NM_001407732.1:c.3874dup NP_001394661.1:p.Glu1292fs frameshift NM_001407733.1:c.3874dup NP_001394662.1:p.Glu1292fs frameshift NM_001407734.1:c.3874dup NP_001394663.1:p.Glu1292fs frameshift NM_001407735.1:c.3874dup NP_001394664.1:p.Glu1292fs frameshift NM_001407736.1:c.3874dup NP_001394665.1:p.Glu1292fs frameshift NM_001407737.1:c.3874dup NP_001394666.1:p.Glu1292fs frameshift NM_001407738.1:c.3874dup NP_001394667.1:p.Glu1292fs frameshift NM_001407739.1:c.3874dup NP_001394668.1:p.Glu1292fs frameshift NM_001407740.1:c.3871dup NP_001394669.1:p.Glu1291fs frameshift NM_001407741.1:c.3871dup NP_001394670.1:p.Glu1291fs frameshift NM_001407742.1:c.3871dup NP_001394671.1:p.Glu1291fs frameshift NM_001407743.1:c.3871dup NP_001394672.1:p.Glu1291fs frameshift NM_001407744.1:c.3871dup NP_001394673.1:p.Glu1291fs frameshift NM_001407745.1:c.3871dup NP_001394674.1:p.Glu1291fs frameshift NM_001407746.1:c.3871dup NP_001394675.1:p.Glu1291fs frameshift NM_001407747.1:c.3871dup NP_001394676.1:p.Glu1291fs frameshift NM_001407748.1:c.3871dup NP_001394677.1:p.Glu1291fs frameshift NM_001407749.1:c.3871dup NP_001394678.1:p.Glu1291fs frameshift NM_001407750.1:c.3874dup NP_001394679.1:p.Glu1292fs frameshift NM_001407751.1:c.3874dup NP_001394680.1:p.Glu1292fs frameshift NM_001407752.1:c.3874dup NP_001394681.1:p.Glu1292fs frameshift NM_001407838.1:c.3871dup NP_001394767.1:p.Glu1291fs frameshift NM_001407839.1:c.3871dup NP_001394768.1:p.Glu1291fs frameshift NM_001407841.1:c.3871dup NP_001394770.1:p.Glu1291fs frameshift NM_001407842.1:c.3871dup NP_001394771.1:p.Glu1291fs frameshift NM_001407843.1:c.3871dup NP_001394772.1:p.Glu1291fs frameshift NM_001407844.1:c.3871dup NP_001394773.1:p.Glu1291fs frameshift NM_001407845.1:c.3871dup NP_001394774.1:p.Glu1291fs frameshift NM_001407846.1:c.3871dup NP_001394775.1:p.Glu1291fs frameshift NM_001407847.1:c.3871dup NP_001394776.1:p.Glu1291fs frameshift NM_001407848.1:c.3871dup NP_001394777.1:p.Glu1291fs frameshift NM_001407849.1:c.3871dup NP_001394778.1:p.Glu1291fs frameshift NM_001407850.1:c.3874dup NP_001394779.1:p.Glu1292fs frameshift NM_001407851.1:c.3874dup NP_001394780.1:p.Glu1292fs frameshift NM_001407852.1:c.3874dup NP_001394781.1:p.Glu1292fs frameshift NM_001407853.1:c.3802dup NP_001394782.1:p.Glu1268fs frameshift NM_001407854.1:c.4015dup NP_001394783.1:p.Glu1339fs frameshift NM_001407858.1:c.4015dup NP_001394787.1:p.Glu1339fs frameshift NM_001407859.1:c.4015dup NP_001394788.1:p.Glu1339fs frameshift NM_001407860.1:c.4012dup NP_001394789.1:p.Glu1338fs frameshift NM_001407861.1:c.4012dup NP_001394790.1:p.Glu1338fs frameshift NM_001407862.1:c.3814dup NP_001394791.1:p.Glu1272fs frameshift NM_001407863.1:c.3892dup NP_001394792.1:p.Glu1298fs frameshift NM_001407874.1:c.3811dup NP_001394803.1:p.Glu1271fs frameshift NM_001407875.1:c.3811dup NP_001394804.1:p.Glu1271fs frameshift NM_001407879.1:c.3805dup NP_001394808.1:p.Glu1269fs frameshift NM_001407881.1:c.3805dup NP_001394810.1:p.Glu1269fs frameshift NM_001407882.1:c.3805dup NP_001394811.1:p.Glu1269fs frameshift NM_001407884.1:c.3805dup NP_001394813.1:p.Glu1269fs frameshift NM_001407885.1:c.3805dup NP_001394814.1:p.Glu1269fs frameshift NM_001407886.1:c.3805dup NP_001394815.1:p.Glu1269fs frameshift NM_001407887.1:c.3805dup NP_001394816.1:p.Glu1269fs frameshift NM_001407889.1:c.3805dup NP_001394818.1:p.Glu1269fs frameshift NM_001407894.1:c.3802dup NP_001394823.1:p.Glu1268fs frameshift NM_001407895.1:c.3802dup NP_001394824.1:p.Glu1268fs frameshift NM_001407896.1:c.3802dup NP_001394825.1:p.Glu1268fs frameshift NM_001407897.1:c.3802dup NP_001394826.1:p.Glu1268fs frameshift NM_001407898.1:c.3802dup NP_001394827.1:p.Glu1268fs frameshift NM_001407899.1:c.3802dup NP_001394828.1:p.Glu1268fs frameshift NM_001407900.1:c.3805dup NP_001394829.1:p.Glu1269fs frameshift NM_001407902.1:c.3805dup NP_001394831.1:p.Glu1269fs frameshift NM_001407904.1:c.3805dup NP_001394833.1:p.Glu1269fs frameshift NM_001407906.1:c.3805dup NP_001394835.1:p.Glu1269fs frameshift NM_001407907.1:c.3805dup NP_001394836.1:p.Glu1269fs frameshift NM_001407908.1:c.3805dup NP_001394837.1:p.Glu1269fs frameshift NM_001407909.1:c.3805dup NP_001394838.1:p.Glu1269fs frameshift NM_001407910.1:c.3805dup NP_001394839.1:p.Glu1269fs frameshift NM_001407915.1:c.3802dup NP_001394844.1:p.Glu1268fs frameshift NM_001407916.1:c.3802dup NP_001394845.1:p.Glu1268fs frameshift NM_001407917.1:c.3802dup NP_001394846.1:p.Glu1268fs frameshift NM_001407918.1:c.3802dup NP_001394847.1:p.Glu1268fs frameshift NM_001407919.1:c.3892dup NP_001394848.1:p.Glu1298fs frameshift NM_001407920.1:c.3751dup NP_001394849.1:p.Glu1251fs frameshift NM_001407921.1:c.3751dup NP_001394850.1:p.Glu1251fs frameshift NM_001407922.1:c.3751dup NP_001394851.1:p.Glu1251fs frameshift NM_001407923.1:c.3751dup NP_001394852.1:p.Glu1251fs frameshift NM_001407924.1:c.3751dup NP_001394853.1:p.Glu1251fs frameshift NM_001407925.1:c.3751dup NP_001394854.1:p.Glu1251fs frameshift NM_001407926.1:c.3751dup NP_001394855.1:p.Glu1251fs frameshift NM_001407927.1:c.3751dup NP_001394856.1:p.Glu1251fs frameshift NM_001407928.1:c.3751dup NP_001394857.1:p.Glu1251fs frameshift NM_001407929.1:c.3751dup NP_001394858.1:p.Glu1251fs frameshift NM_001407930.1:c.3748dup NP_001394859.1:p.Glu1250fs frameshift NM_001407931.1:c.3748dup NP_001394860.1:p.Glu1250fs frameshift NM_001407932.1:c.3748dup NP_001394861.1:p.Glu1250fs frameshift NM_001407933.1:c.3751dup NP_001394862.1:p.Glu1251fs frameshift NM_001407934.1:c.3748dup NP_001394863.1:p.Glu1250fs frameshift NM_001407935.1:c.3751dup NP_001394864.1:p.Glu1251fs frameshift NM_001407936.1:c.3748dup NP_001394865.1:p.Glu1250fs frameshift NM_001407937.1:c.3892dup NP_001394866.1:p.Glu1298fs frameshift NM_001407938.1:c.3892dup NP_001394867.1:p.Glu1298fs frameshift NM_001407939.1:c.3892dup NP_001394868.1:p.Glu1298fs frameshift NM_001407940.1:c.3889dup NP_001394869.1:p.Glu1297fs frameshift NM_001407941.1:c.3889dup NP_001394870.1:p.Glu1297fs frameshift NM_001407942.1:c.3874dup NP_001394871.1:p.Glu1292fs frameshift NM_001407943.1:c.3871dup NP_001394872.1:p.Glu1291fs frameshift NM_001407944.1:c.3874dup NP_001394873.1:p.Glu1292fs frameshift NM_001407945.1:c.3874dup NP_001394874.1:p.Glu1292fs frameshift NM_001407946.1:c.3682dup NP_001394875.1:p.Glu1228fs frameshift NM_001407947.1:c.3682dup NP_001394876.1:p.Glu1228fs frameshift NM_001407948.1:c.3682dup NP_001394877.1:p.Glu1228fs frameshift NM_001407949.1:c.3682dup NP_001394878.1:p.Glu1228fs frameshift NM_001407950.1:c.3682dup NP_001394879.1:p.Glu1228fs frameshift NM_001407951.1:c.3682dup NP_001394880.1:p.Glu1228fs frameshift NM_001407952.1:c.3682dup NP_001394881.1:p.Glu1228fs frameshift NM_001407953.1:c.3682dup NP_001394882.1:p.Glu1228fs frameshift NM_001407954.1:c.3679dup NP_001394883.1:p.Glu1227fs frameshift NM_001407955.1:c.3679dup NP_001394884.1:p.Glu1227fs frameshift NM_001407956.1:c.3679dup NP_001394885.1:p.Glu1227fs frameshift NM_001407957.1:c.3682dup NP_001394886.1:p.Glu1228fs frameshift NM_001407958.1:c.3679dup NP_001394887.1:p.Glu1227fs frameshift NM_001407959.1:c.3634dup NP_001394888.1:p.Glu1212fs frameshift NM_001407960.1:c.3634dup NP_001394889.1:p.Glu1212fs frameshift NM_001407962.1:c.3631dup NP_001394891.1:p.Glu1211fs frameshift NM_001407963.1:c.3634dup NP_001394892.1:p.Glu1212fs frameshift NM_001407964.1:c.3871dup NP_001394893.1:p.Glu1291fs frameshift NM_001407965.1:c.3511dup NP_001394894.1:p.Glu1171fs frameshift NM_001407966.1:c.3127dup NP_001394895.1:p.Glu1043fs frameshift NM_001407967.1:c.3127dup NP_001394896.1:p.Glu1043fs frameshift NM_001407968.1:c.1411dup NP_001394897.1:p.Glu471fs frameshift NM_001407969.1:c.1411dup NP_001394898.1:p.Glu471fs frameshift NM_001407970.1:c.788-484dup intron variant NM_001407971.1:c.788-484dup intron variant NM_001407972.1:c.785-484dup intron variant NM_001407973.1:c.788-484dup intron variant NM_001407974.1:c.788-484dup intron variant NM_001407975.1:c.788-484dup intron variant NM_001407976.1:c.788-484dup intron variant NM_001407977.1:c.788-484dup intron variant NM_001407978.1:c.788-484dup intron variant NM_001407979.1:c.788-484dup intron variant NM_001407980.1:c.788-484dup intron variant NM_001407981.1:c.788-484dup intron variant NM_001407982.1:c.788-484dup intron variant NM_001407983.1:c.788-484dup intron variant NM_001407984.1:c.785-484dup intron variant NM_001407985.1:c.785-484dup intron variant NM_001407986.1:c.785-484dup intron variant NM_001407990.1:c.788-484dup intron variant NM_001407991.1:c.785-484dup intron variant NM_001407992.1:c.785-484dup intron variant NM_001407993.1:c.788-484dup intron variant NM_001408392.1:c.785-484dup intron variant NM_001408396.1:c.785-484dup intron variant NM_001408397.1:c.785-484dup intron variant NM_001408398.1:c.785-484dup intron variant NM_001408399.1:c.785-484dup intron variant NM_001408400.1:c.785-484dup intron variant NM_001408401.1:c.785-484dup intron variant NM_001408402.1:c.785-484dup intron variant NM_001408403.1:c.788-484dup intron variant NM_001408404.1:c.788-484dup intron variant NM_001408406.1:c.791-493dup intron variant NM_001408407.1:c.785-484dup intron variant NM_001408408.1:c.779-484dup intron variant NM_001408409.1:c.710-484dup intron variant NM_001408410.1:c.647-484dup intron variant NM_001408411.1:c.710-484dup intron variant NM_001408412.1:c.710-484dup intron variant NM_001408413.1:c.707-484dup intron variant NM_001408414.1:c.710-484dup intron variant NM_001408415.1:c.710-484dup intron variant NM_001408416.1:c.707-484dup intron variant NM_001408418.1:c.671-484dup intron variant NM_001408419.1:c.671-484dup intron variant NM_001408420.1:c.671-484dup intron variant NM_001408421.1:c.668-484dup intron variant NM_001408422.1:c.671-484dup intron variant NM_001408423.1:c.671-484dup intron variant NM_001408424.1:c.668-484dup intron variant NM_001408425.1:c.665-484dup intron variant NM_001408426.1:c.665-484dup intron variant NM_001408427.1:c.665-484dup intron variant NM_001408428.1:c.665-484dup intron variant NM_001408429.1:c.665-484dup intron variant NM_001408430.1:c.665-484dup intron variant NM_001408431.1:c.668-484dup intron variant NM_001408432.1:c.662-484dup intron variant NM_001408433.1:c.662-484dup intron variant NM_001408434.1:c.662-484dup intron variant NM_001408435.1:c.662-484dup intron variant NM_001408436.1:c.665-484dup intron variant NM_001408437.1:c.665-484dup intron variant NM_001408438.1:c.665-484dup intron variant NM_001408439.1:c.665-484dup intron variant NM_001408440.1:c.665-484dup intron variant NM_001408441.1:c.665-484dup intron variant NM_001408442.1:c.665-484dup intron variant NM_001408443.1:c.665-484dup intron variant NM_001408444.1:c.665-484dup intron variant NM_001408445.1:c.662-484dup intron variant NM_001408446.1:c.662-484dup intron variant NM_001408447.1:c.662-484dup intron variant NM_001408448.1:c.662-484dup intron variant NM_001408450.1:c.662-484dup intron variant NM_001408451.1:c.653-484dup intron variant NM_001408452.1:c.647-484dup intron variant NM_001408453.1:c.647-484dup intron variant NM_001408454.1:c.647-484dup intron variant NM_001408455.1:c.647-484dup intron variant NM_001408456.1:c.647-484dup intron variant NM_001408457.1:c.647-484dup intron variant NM_001408458.1:c.647-484dup intron variant NM_001408459.1:c.647-484dup intron variant NM_001408460.1:c.647-484dup intron variant NM_001408461.1:c.647-484dup intron variant NM_001408462.1:c.644-484dup intron variant NM_001408463.1:c.644-484dup intron variant NM_001408464.1:c.644-484dup intron variant NM_001408465.1:c.644-484dup intron variant NM_001408466.1:c.647-484dup intron variant NM_001408467.1:c.647-484dup intron variant NM_001408468.1:c.644-484dup intron variant NM_001408469.1:c.647-484dup intron variant NM_001408470.1:c.644-484dup intron variant NM_001408472.1:c.788-484dup intron variant NM_001408473.1:c.785-484dup intron variant NM_001408474.1:c.587-484dup intron variant NM_001408475.1:c.584-484dup intron variant NM_001408476.1:c.587-484dup intron variant NM_001408478.1:c.578-484dup intron variant NM_001408479.1:c.578-484dup intron variant NM_001408480.1:c.578-484dup intron variant NM_001408481.1:c.578-484dup intron variant NM_001408482.1:c.578-484dup intron variant NM_001408483.1:c.578-484dup intron variant NM_001408484.1:c.578-484dup intron variant NM_001408485.1:c.578-484dup intron variant NM_001408489.1:c.578-484dup intron variant NM_001408490.1:c.575-484dup intron variant NM_001408491.1:c.575-484dup intron variant NM_001408492.1:c.578-484dup intron variant NM_001408493.1:c.575-484dup intron variant NM_001408494.1:c.548-484dup intron variant NM_001408495.1:c.545-484dup intron variant NM_001408496.1:c.524-484dup intron variant NM_001408497.1:c.524-484dup intron variant NM_001408498.1:c.524-484dup intron variant NM_001408499.1:c.524-484dup intron variant NM_001408500.1:c.524-484dup intron variant NM_001408501.1:c.524-484dup intron variant NM_001408502.1:c.455-484dup intron variant NM_001408503.1:c.521-484dup intron variant NM_001408504.1:c.521-484dup intron variant NM_001408505.1:c.521-484dup intron variant NM_001408506.1:c.461-484dup intron variant NM_001408507.1:c.461-484dup intron variant NM_001408508.1:c.452-484dup intron variant NM_001408509.1:c.452-484dup intron variant NM_001408510.1:c.407-484dup intron variant NM_001408511.1:c.404-484dup intron variant NM_001408512.1:c.284-484dup intron variant NM_001408513.1:c.578-484dup intron variant NM_001408514.1:c.578-484dup intron variant NM_007294.3:c.4015dupG frameshift NM_007297.4:c.3874dup NP_009228.2:p.Glu1292fs frameshift NM_007298.4:c.788-484dup intron variant NM_007299.4:c.788-484dup intron variant NM_007300.4:c.4015dup NP_009231.2:p.Glu1339fs frameshift NR_027676.1:n.4150dup NC_000017.11:g.43091517dup NC_000017.10:g.41243534dup NG_005905.2:g.126468dup NG_087068.1:g.499dup LRG_292:g.126468dup LRG_292t1:c.4014dup LRG_292p1:p.Glu1339Glyfs - Protein change
- E1292fs, E1339fs, E1291fs, E1297fs, E1336fs, E1228fs, E1269fs, E1271fs, E1298fs, E1312fs, E1313fs, E1338fs, E471fs, E1171fs, E1211fs, E1227fs, E1250fs, E1251fs, E1268fs, E1043fs, E1212fs, E1272fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091515:CC:CCC
-
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. |
|---|---|---|---|---|
| Pathogenic (1) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000241458.10 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Sep 08, 2016)
|
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)
Accession: SCV000300055.2
First in ClinVar: Sep 25, 2016 Last updated: Sep 25, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
Comment:
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.
Citations for germline classification of this variant
Help| There 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 rs886038030 ...
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.