ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4052dup (p.Leu1351fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4052dup (p.Leu1351fs)
Variation ID: 55088 Accession: VCV000055088.4
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091478-43091479 (GRCh38) [ NCBI UCSC ] 17: 41243495-41243496 (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 Apr 4, 2014 Sep 24, 2016 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4052dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1351fs frameshift NM_001407571.1:c.3839dup NP_001394500.1:p.Leu1280fs frameshift NM_001407581.1:c.4052dup NP_001394510.1:p.Leu1351fs frameshift NM_001407582.1:c.4052dup NP_001394511.1:p.Leu1351fs frameshift NM_001407583.1:c.4052dup NP_001394512.1:p.Leu1351fs frameshift NM_001407585.1:c.4052dup NP_001394514.1:p.Leu1351fs frameshift NM_001407587.1:c.4049dup NP_001394516.1:p.Leu1350fs frameshift NM_001407590.1:c.4049dup NP_001394519.1:p.Leu1350fs frameshift NM_001407591.1:c.4049dup NP_001394520.1:p.Leu1350fs frameshift NM_001407593.1:c.4052dup NP_001394522.1:p.Leu1351fs frameshift NM_001407594.1:c.4052dup NP_001394523.1:p.Leu1351fs frameshift NM_001407596.1:c.4052dup NP_001394525.1:p.Leu1351fs frameshift NM_001407597.1:c.4052dup NP_001394526.1:p.Leu1351fs frameshift NM_001407598.1:c.4052dup NP_001394527.1:p.Leu1351fs frameshift NM_001407602.1:c.4052dup NP_001394531.1:p.Leu1351fs frameshift NM_001407603.1:c.4052dup NP_001394532.1:p.Leu1351fs frameshift NM_001407605.1:c.4052dup NP_001394534.1:p.Leu1351fs frameshift NM_001407610.1:c.4049dup NP_001394539.1:p.Leu1350fs frameshift NM_001407611.1:c.4049dup NP_001394540.1:p.Leu1350fs frameshift NM_001407612.1:c.4049dup NP_001394541.1:p.Leu1350fs frameshift NM_001407613.1:c.4049dup NP_001394542.1:p.Leu1350fs frameshift NM_001407614.1:c.4049dup NP_001394543.1:p.Leu1350fs frameshift NM_001407615.1:c.4049dup NP_001394544.1:p.Leu1350fs frameshift NM_001407616.1:c.4052dup NP_001394545.1:p.Leu1351fs frameshift NM_001407617.1:c.4052dup NP_001394546.1:p.Leu1351fs frameshift NM_001407618.1:c.4052dup NP_001394547.1:p.Leu1351fs frameshift NM_001407619.1:c.4052dup NP_001394548.1:p.Leu1351fs frameshift NM_001407620.1:c.4052dup NP_001394549.1:p.Leu1351fs frameshift NM_001407621.1:c.4052dup NP_001394550.1:p.Leu1351fs frameshift NM_001407622.1:c.4052dup NP_001394551.1:p.Leu1351fs frameshift NM_001407623.1:c.4052dup NP_001394552.1:p.Leu1351fs frameshift NM_001407624.1:c.4052dup NP_001394553.1:p.Leu1351fs frameshift NM_001407625.1:c.4052dup NP_001394554.1:p.Leu1351fs frameshift NM_001407626.1:c.4052dup NP_001394555.1:p.Leu1351fs frameshift NM_001407627.1:c.4049dup NP_001394556.1:p.Leu1350fs frameshift NM_001407628.1:c.4049dup NP_001394557.1:p.Leu1350fs frameshift NM_001407629.1:c.4049dup NP_001394558.1:p.Leu1350fs frameshift NM_001407630.1:c.4049dup NP_001394559.1:p.Leu1350fs frameshift NM_001407631.1:c.4049dup NP_001394560.1:p.Leu1350fs frameshift NM_001407632.1:c.4049dup NP_001394561.1:p.Leu1350fs frameshift NM_001407633.1:c.4049dup NP_001394562.1:p.Leu1350fs frameshift NM_001407634.1:c.4049dup NP_001394563.1:p.Leu1350fs frameshift NM_001407635.1:c.4049dup NP_001394564.1:p.Leu1350fs frameshift NM_001407636.1:c.4049dup NP_001394565.1:p.Leu1350fs frameshift NM_001407637.1:c.4049dup NP_001394566.1:p.Leu1350fs frameshift NM_001407638.1:c.4049dup NP_001394567.1:p.Leu1350fs frameshift NM_001407639.1:c.4052dup NP_001394568.1:p.Leu1351fs frameshift NM_001407640.1:c.4052dup NP_001394569.1:p.Leu1351fs frameshift NM_001407641.1:c.4052dup NP_001394570.1:p.Leu1351fs frameshift NM_001407642.1:c.4052dup NP_001394571.1:p.Leu1351fs frameshift NM_001407644.1:c.4049dup NP_001394573.1:p.Leu1350fs frameshift NM_001407645.1:c.4049dup NP_001394574.1:p.Leu1350fs frameshift NM_001407646.1:c.4043dup NP_001394575.1:p.Leu1348fs frameshift NM_001407647.1:c.4043dup NP_001394576.1:p.Leu1348fs frameshift NM_001407648.1:c.3929dup NP_001394577.1:p.Leu1310fs frameshift NM_001407649.1:c.3926dup NP_001394578.1:p.Leu1309fs frameshift NM_001407652.1:c.4052dup NP_001394581.1:p.Leu1351fs frameshift NM_001407653.1:c.3974dup NP_001394582.1:p.Leu1325fs frameshift NM_001407654.1:c.3974dup NP_001394583.1:p.Leu1325fs frameshift NM_001407655.1:c.3974dup NP_001394584.1:p.Leu1325fs frameshift NM_001407656.1:c.3974dup NP_001394585.1:p.Leu1325fs frameshift NM_001407657.1:c.3974dup NP_001394586.1:p.Leu1325fs frameshift NM_001407658.1:c.3974dup NP_001394587.1:p.Leu1325fs frameshift NM_001407659.1:c.3971dup NP_001394588.1:p.Leu1324fs frameshift NM_001407660.1:c.3971dup NP_001394589.1:p.Leu1324fs frameshift NM_001407661.1:c.3971dup NP_001394590.1:p.Leu1324fs frameshift NM_001407662.1:c.3971dup NP_001394591.1:p.Leu1324fs frameshift NM_001407663.1:c.3974dup NP_001394592.1:p.Leu1325fs frameshift NM_001407664.1:c.3929dup NP_001394593.1:p.Leu1310fs frameshift NM_001407665.1:c.3929dup NP_001394594.1:p.Leu1310fs frameshift NM_001407666.1:c.3929dup NP_001394595.1:p.Leu1310fs frameshift NM_001407667.1:c.3929dup NP_001394596.1:p.Leu1310fs frameshift NM_001407668.1:c.3929dup NP_001394597.1:p.Leu1310fs frameshift NM_001407669.1:c.3929dup NP_001394598.1:p.Leu1310fs frameshift NM_001407670.1:c.3926dup NP_001394599.1:p.Leu1309fs frameshift NM_001407671.1:c.3926dup NP_001394600.1:p.Leu1309fs frameshift NM_001407672.1:c.3926dup NP_001394601.1:p.Leu1309fs frameshift NM_001407673.1:c.3926dup NP_001394602.1:p.Leu1309fs frameshift NM_001407674.1:c.3929dup NP_001394603.1:p.Leu1310fs frameshift NM_001407675.1:c.3929dup NP_001394604.1:p.Leu1310fs frameshift NM_001407676.1:c.3929dup NP_001394605.1:p.Leu1310fs frameshift NM_001407677.1:c.3929dup NP_001394606.1:p.Leu1310fs frameshift NM_001407678.1:c.3929dup NP_001394607.1:p.Leu1310fs frameshift NM_001407679.1:c.3929dup NP_001394608.1:p.Leu1310fs frameshift NM_001407680.1:c.3929dup NP_001394609.1:p.Leu1310fs frameshift NM_001407681.1:c.3929dup NP_001394610.1:p.Leu1310fs frameshift NM_001407682.1:c.3929dup NP_001394611.1:p.Leu1310fs frameshift NM_001407683.1:c.3929dup NP_001394612.1:p.Leu1310fs frameshift NM_001407684.1:c.4052dup NP_001394613.1:p.Leu1351fs frameshift NM_001407685.1:c.3926dup NP_001394614.1:p.Leu1309fs frameshift NM_001407686.1:c.3926dup NP_001394615.1:p.Leu1309fs frameshift NM_001407687.1:c.3926dup NP_001394616.1:p.Leu1309fs frameshift NM_001407688.1:c.3926dup NP_001394617.1:p.Leu1309fs frameshift NM_001407689.1:c.3926dup NP_001394618.1:p.Leu1309fs frameshift NM_001407690.1:c.3926dup NP_001394619.1:p.Leu1309fs frameshift NM_001407691.1:c.3926dup NP_001394620.1:p.Leu1309fs frameshift NM_001407692.1:c.3911dup NP_001394621.1:p.Leu1304fs frameshift NM_001407694.1:c.3911dup NP_001394623.1:p.Leu1304fs frameshift NM_001407695.1:c.3911dup NP_001394624.1:p.Leu1304fs frameshift NM_001407696.1:c.3911dup NP_001394625.1:p.Leu1304fs frameshift NM_001407697.1:c.3911dup NP_001394626.1:p.Leu1304fs frameshift NM_001407698.1:c.3911dup NP_001394627.1:p.Leu1304fs frameshift NM_001407724.1:c.3911dup NP_001394653.1:p.Leu1304fs frameshift NM_001407725.1:c.3911dup NP_001394654.1:p.Leu1304fs frameshift NM_001407726.1:c.3911dup NP_001394655.1:p.Leu1304fs frameshift NM_001407727.1:c.3911dup NP_001394656.1:p.Leu1304fs frameshift NM_001407728.1:c.3911dup NP_001394657.1:p.Leu1304fs frameshift NM_001407729.1:c.3911dup NP_001394658.1:p.Leu1304fs frameshift NM_001407730.1:c.3911dup NP_001394659.1:p.Leu1304fs frameshift NM_001407731.1:c.3911dup NP_001394660.1:p.Leu1304fs frameshift NM_001407732.1:c.3911dup NP_001394661.1:p.Leu1304fs frameshift NM_001407733.1:c.3911dup NP_001394662.1:p.Leu1304fs frameshift NM_001407734.1:c.3911dup NP_001394663.1:p.Leu1304fs frameshift NM_001407735.1:c.3911dup NP_001394664.1:p.Leu1304fs frameshift NM_001407736.1:c.3911dup NP_001394665.1:p.Leu1304fs frameshift NM_001407737.1:c.3911dup NP_001394666.1:p.Leu1304fs frameshift NM_001407738.1:c.3911dup NP_001394667.1:p.Leu1304fs frameshift NM_001407739.1:c.3911dup NP_001394668.1:p.Leu1304fs frameshift NM_001407740.1:c.3908dup NP_001394669.1:p.Leu1303fs frameshift NM_001407741.1:c.3908dup NP_001394670.1:p.Leu1303fs frameshift NM_001407742.1:c.3908dup NP_001394671.1:p.Leu1303fs frameshift NM_001407743.1:c.3908dup NP_001394672.1:p.Leu1303fs frameshift NM_001407744.1:c.3908dup NP_001394673.1:p.Leu1303fs frameshift NM_001407745.1:c.3908dup NP_001394674.1:p.Leu1303fs frameshift NM_001407746.1:c.3908dup NP_001394675.1:p.Leu1303fs frameshift NM_001407747.1:c.3908dup NP_001394676.1:p.Leu1303fs frameshift NM_001407748.1:c.3908dup NP_001394677.1:p.Leu1303fs frameshift NM_001407749.1:c.3908dup NP_001394678.1:p.Leu1303fs frameshift NM_001407750.1:c.3911dup NP_001394679.1:p.Leu1304fs frameshift NM_001407751.1:c.3911dup NP_001394680.1:p.Leu1304fs frameshift NM_001407752.1:c.3911dup NP_001394681.1:p.Leu1304fs frameshift NM_001407838.1:c.3908dup NP_001394767.1:p.Leu1303fs frameshift NM_001407839.1:c.3908dup NP_001394768.1:p.Leu1303fs frameshift NM_001407841.1:c.3908dup NP_001394770.1:p.Leu1303fs frameshift NM_001407842.1:c.3908dup NP_001394771.1:p.Leu1303fs frameshift NM_001407843.1:c.3908dup NP_001394772.1:p.Leu1303fs frameshift NM_001407844.1:c.3908dup NP_001394773.1:p.Leu1303fs frameshift NM_001407845.1:c.3908dup NP_001394774.1:p.Leu1303fs frameshift NM_001407846.1:c.3908dup NP_001394775.1:p.Leu1303fs frameshift NM_001407847.1:c.3908dup NP_001394776.1:p.Leu1303fs frameshift NM_001407848.1:c.3908dup NP_001394777.1:p.Leu1303fs frameshift NM_001407849.1:c.3908dup NP_001394778.1:p.Leu1303fs frameshift NM_001407850.1:c.3911dup NP_001394779.1:p.Leu1304fs frameshift NM_001407851.1:c.3911dup NP_001394780.1:p.Leu1304fs frameshift NM_001407852.1:c.3911dup NP_001394781.1:p.Leu1304fs frameshift NM_001407853.1:c.3839dup NP_001394782.1:p.Leu1280fs frameshift NM_001407854.1:c.4052dup NP_001394783.1:p.Leu1351fs frameshift NM_001407858.1:c.4052dup NP_001394787.1:p.Leu1351fs frameshift NM_001407859.1:c.4052dup NP_001394788.1:p.Leu1351fs frameshift NM_001407860.1:c.4049dup NP_001394789.1:p.Leu1350fs frameshift NM_001407861.1:c.4049dup NP_001394790.1:p.Leu1350fs frameshift NM_001407862.1:c.3851dup NP_001394791.1:p.Leu1284fs frameshift NM_001407863.1:c.3929dup NP_001394792.1:p.Leu1310fs frameshift NM_001407874.1:c.3848dup NP_001394803.1:p.Leu1283fs frameshift NM_001407875.1:c.3848dup NP_001394804.1:p.Leu1283fs frameshift NM_001407879.1:c.3842dup NP_001394808.1:p.Leu1281fs frameshift NM_001407881.1:c.3842dup NP_001394810.1:p.Leu1281fs frameshift NM_001407882.1:c.3842dup NP_001394811.1:p.Leu1281fs frameshift NM_001407884.1:c.3842dup NP_001394813.1:p.Leu1281fs frameshift NM_001407885.1:c.3842dup NP_001394814.1:p.Leu1281fs frameshift NM_001407886.1:c.3842dup NP_001394815.1:p.Leu1281fs frameshift NM_001407887.1:c.3842dup NP_001394816.1:p.Leu1281fs frameshift NM_001407889.1:c.3842dup NP_001394818.1:p.Leu1281fs frameshift NM_001407894.1:c.3839dup NP_001394823.1:p.Leu1280fs frameshift NM_001407895.1:c.3839dup NP_001394824.1:p.Leu1280fs frameshift NM_001407896.1:c.3839dup NP_001394825.1:p.Leu1280fs frameshift NM_001407897.1:c.3839dup NP_001394826.1:p.Leu1280fs frameshift NM_001407898.1:c.3839dup NP_001394827.1:p.Leu1280fs frameshift NM_001407899.1:c.3839dup NP_001394828.1:p.Leu1280fs frameshift NM_001407900.1:c.3842dup NP_001394829.1:p.Leu1281fs frameshift NM_001407902.1:c.3842dup NP_001394831.1:p.Leu1281fs frameshift NM_001407904.1:c.3842dup NP_001394833.1:p.Leu1281fs frameshift NM_001407906.1:c.3842dup NP_001394835.1:p.Leu1281fs frameshift NM_001407907.1:c.3842dup NP_001394836.1:p.Leu1281fs frameshift NM_001407908.1:c.3842dup NP_001394837.1:p.Leu1281fs frameshift NM_001407909.1:c.3842dup NP_001394838.1:p.Leu1281fs frameshift NM_001407910.1:c.3842dup NP_001394839.1:p.Leu1281fs frameshift NM_001407915.1:c.3839dup NP_001394844.1:p.Leu1280fs frameshift NM_001407916.1:c.3839dup NP_001394845.1:p.Leu1280fs frameshift NM_001407917.1:c.3839dup NP_001394846.1:p.Leu1280fs frameshift NM_001407918.1:c.3839dup NP_001394847.1:p.Leu1280fs frameshift NM_001407919.1:c.3929dup NP_001394848.1:p.Leu1310fs frameshift NM_001407920.1:c.3788dup NP_001394849.1:p.Leu1263fs frameshift NM_001407921.1:c.3788dup NP_001394850.1:p.Leu1263fs frameshift NM_001407922.1:c.3788dup NP_001394851.1:p.Leu1263fs frameshift NM_001407923.1:c.3788dup NP_001394852.1:p.Leu1263fs frameshift NM_001407924.1:c.3788dup NP_001394853.1:p.Leu1263fs frameshift NM_001407925.1:c.3788dup NP_001394854.1:p.Leu1263fs frameshift NM_001407926.1:c.3788dup NP_001394855.1:p.Leu1263fs frameshift NM_001407927.1:c.3788dup NP_001394856.1:p.Leu1263fs frameshift NM_001407928.1:c.3788dup NP_001394857.1:p.Leu1263fs frameshift NM_001407929.1:c.3788dup NP_001394858.1:p.Leu1263fs frameshift NM_001407930.1:c.3785dup NP_001394859.1:p.Leu1262fs frameshift NM_001407931.1:c.3785dup NP_001394860.1:p.Leu1262fs frameshift NM_001407932.1:c.3785dup NP_001394861.1:p.Leu1262fs frameshift NM_001407933.1:c.3788dup NP_001394862.1:p.Leu1263fs frameshift NM_001407934.1:c.3785dup NP_001394863.1:p.Leu1262fs frameshift NM_001407935.1:c.3788dup NP_001394864.1:p.Leu1263fs frameshift NM_001407936.1:c.3785dup NP_001394865.1:p.Leu1262fs frameshift NM_001407937.1:c.3929dup NP_001394866.1:p.Leu1310fs frameshift NM_001407938.1:c.3929dup NP_001394867.1:p.Leu1310fs frameshift NM_001407939.1:c.3929dup NP_001394868.1:p.Leu1310fs frameshift NM_001407940.1:c.3926dup NP_001394869.1:p.Leu1309fs frameshift NM_001407941.1:c.3926dup NP_001394870.1:p.Leu1309fs frameshift NM_001407942.1:c.3911dup NP_001394871.1:p.Leu1304fs frameshift NM_001407943.1:c.3908dup NP_001394872.1:p.Leu1303fs frameshift NM_001407944.1:c.3911dup NP_001394873.1:p.Leu1304fs frameshift NM_001407945.1:c.3911dup NP_001394874.1:p.Leu1304fs frameshift NM_001407946.1:c.3719dup NP_001394875.1:p.Leu1240fs frameshift NM_001407947.1:c.3719dup NP_001394876.1:p.Leu1240fs frameshift NM_001407948.1:c.3719dup NP_001394877.1:p.Leu1240fs frameshift NM_001407949.1:c.3719dup NP_001394878.1:p.Leu1240fs frameshift NM_001407950.1:c.3719dup NP_001394879.1:p.Leu1240fs frameshift NM_001407951.1:c.3719dup NP_001394880.1:p.Leu1240fs frameshift NM_001407952.1:c.3719dup NP_001394881.1:p.Leu1240fs frameshift NM_001407953.1:c.3719dup NP_001394882.1:p.Leu1240fs frameshift NM_001407954.1:c.3716dup NP_001394883.1:p.Leu1239fs frameshift NM_001407955.1:c.3716dup NP_001394884.1:p.Leu1239fs frameshift NM_001407956.1:c.3716dup NP_001394885.1:p.Leu1239fs frameshift NM_001407957.1:c.3719dup NP_001394886.1:p.Leu1240fs frameshift NM_001407958.1:c.3716dup NP_001394887.1:p.Leu1239fs frameshift NM_001407959.1:c.3671dup NP_001394888.1:p.Leu1224fs frameshift NM_001407960.1:c.3671dup NP_001394889.1:p.Leu1224fs frameshift NM_001407962.1:c.3668dup NP_001394891.1:p.Leu1223fs frameshift NM_001407963.1:c.3671dup NP_001394892.1:p.Leu1224fs frameshift NM_001407964.1:c.3908dup NP_001394893.1:p.Leu1303fs frameshift NM_001407965.1:c.3548dup NP_001394894.1:p.Leu1183fs frameshift NM_001407966.1:c.3164dup NP_001394895.1:p.Leu1055fs frameshift NM_001407967.1:c.3164dup NP_001394896.1:p.Leu1055fs frameshift NM_001407968.1:c.1448dup NP_001394897.1:p.Leu483fs frameshift NM_001407969.1:c.1448dup NP_001394898.1:p.Leu483fs frameshift NM_001407970.1:c.788-447dup intron variant NM_001407971.1:c.788-447dup intron variant NM_001407972.1:c.785-447dup intron variant NM_001407973.1:c.788-447dup intron variant NM_001407974.1:c.788-447dup intron variant NM_001407975.1:c.788-447dup intron variant NM_001407976.1:c.788-447dup intron variant NM_001407977.1:c.788-447dup intron variant NM_001407978.1:c.788-447dup intron variant NM_001407979.1:c.788-447dup intron variant NM_001407980.1:c.788-447dup intron variant NM_001407981.1:c.788-447dup intron variant NM_001407982.1:c.788-447dup intron variant NM_001407983.1:c.788-447dup intron variant NM_001407984.1:c.785-447dup intron variant NM_001407985.1:c.785-447dup intron variant NM_001407986.1:c.785-447dup intron variant NM_001407990.1:c.788-447dup intron variant NM_001407991.1:c.785-447dup intron variant NM_001407992.1:c.785-447dup intron variant NM_001407993.1:c.788-447dup intron variant NM_001408392.1:c.785-447dup intron variant NM_001408396.1:c.785-447dup intron variant NM_001408397.1:c.785-447dup intron variant NM_001408398.1:c.785-447dup intron variant NM_001408399.1:c.785-447dup intron variant NM_001408400.1:c.785-447dup intron variant NM_001408401.1:c.785-447dup intron variant NM_001408402.1:c.785-447dup intron variant NM_001408403.1:c.788-447dup intron variant NM_001408404.1:c.788-447dup intron variant NM_001408406.1:c.791-456dup intron variant NM_001408407.1:c.785-447dup intron variant NM_001408408.1:c.779-447dup intron variant NM_001408409.1:c.710-447dup intron variant NM_001408410.1:c.647-447dup intron variant NM_001408411.1:c.710-447dup intron variant NM_001408412.1:c.710-447dup intron variant NM_001408413.1:c.707-447dup intron variant NM_001408414.1:c.710-447dup intron variant NM_001408415.1:c.710-447dup intron variant NM_001408416.1:c.707-447dup intron variant NM_001408418.1:c.671-447dup intron variant NM_001408419.1:c.671-447dup intron variant NM_001408420.1:c.671-447dup intron variant NM_001408421.1:c.668-447dup intron variant NM_001408422.1:c.671-447dup intron variant NM_001408423.1:c.671-447dup intron variant NM_001408424.1:c.668-447dup intron variant NM_001408425.1:c.665-447dup intron variant NM_001408426.1:c.665-447dup intron variant NM_001408427.1:c.665-447dup intron variant NM_001408428.1:c.665-447dup intron variant NM_001408429.1:c.665-447dup intron variant NM_001408430.1:c.665-447dup intron variant NM_001408431.1:c.668-447dup intron variant NM_001408432.1:c.662-447dup intron variant NM_001408433.1:c.662-447dup intron variant NM_001408434.1:c.662-447dup intron variant NM_001408435.1:c.662-447dup intron variant NM_001408436.1:c.665-447dup intron variant NM_001408437.1:c.665-447dup intron variant NM_001408438.1:c.665-447dup intron variant NM_001408439.1:c.665-447dup intron variant NM_001408440.1:c.665-447dup intron variant NM_001408441.1:c.665-447dup intron variant NM_001408442.1:c.665-447dup intron variant NM_001408443.1:c.665-447dup intron variant NM_001408444.1:c.665-447dup intron variant NM_001408445.1:c.662-447dup intron variant NM_001408446.1:c.662-447dup intron variant NM_001408447.1:c.662-447dup intron variant NM_001408448.1:c.662-447dup intron variant NM_001408450.1:c.662-447dup intron variant NM_001408451.1:c.653-447dup intron variant NM_001408452.1:c.647-447dup intron variant NM_001408453.1:c.647-447dup intron variant NM_001408454.1:c.647-447dup intron variant NM_001408455.1:c.647-447dup intron variant NM_001408456.1:c.647-447dup intron variant NM_001408457.1:c.647-447dup intron variant NM_001408458.1:c.647-447dup intron variant NM_001408459.1:c.647-447dup intron variant NM_001408460.1:c.647-447dup intron variant NM_001408461.1:c.647-447dup intron variant NM_001408462.1:c.644-447dup intron variant NM_001408463.1:c.644-447dup intron variant NM_001408464.1:c.644-447dup intron variant NM_001408465.1:c.644-447dup intron variant NM_001408466.1:c.647-447dup intron variant NM_001408467.1:c.647-447dup intron variant NM_001408468.1:c.644-447dup intron variant NM_001408469.1:c.647-447dup intron variant NM_001408470.1:c.644-447dup intron variant NM_001408472.1:c.788-447dup intron variant NM_001408473.1:c.785-447dup intron variant NM_001408474.1:c.587-447dup intron variant NM_001408475.1:c.584-447dup intron variant NM_001408476.1:c.587-447dup intron variant NM_001408478.1:c.578-447dup intron variant NM_001408479.1:c.578-447dup intron variant NM_001408480.1:c.578-447dup intron variant NM_001408481.1:c.578-447dup intron variant NM_001408482.1:c.578-447dup intron variant NM_001408483.1:c.578-447dup intron variant NM_001408484.1:c.578-447dup intron variant NM_001408485.1:c.578-447dup intron variant NM_001408489.1:c.578-447dup intron variant NM_001408490.1:c.575-447dup intron variant NM_001408491.1:c.575-447dup intron variant NM_001408492.1:c.578-447dup intron variant NM_001408493.1:c.575-447dup intron variant NM_001408494.1:c.548-447dup intron variant NM_001408495.1:c.545-447dup intron variant NM_001408496.1:c.524-447dup intron variant NM_001408497.1:c.524-447dup intron variant NM_001408498.1:c.524-447dup intron variant NM_001408499.1:c.524-447dup intron variant NM_001408500.1:c.524-447dup intron variant NM_001408501.1:c.524-447dup intron variant NM_001408502.1:c.455-447dup intron variant NM_001408503.1:c.521-447dup intron variant NM_001408504.1:c.521-447dup intron variant NM_001408505.1:c.521-447dup intron variant NM_001408506.1:c.461-447dup intron variant NM_001408507.1:c.461-447dup intron variant NM_001408508.1:c.452-447dup intron variant NM_001408509.1:c.452-447dup intron variant NM_001408510.1:c.407-447dup intron variant NM_001408511.1:c.404-447dup intron variant NM_001408512.1:c.284-447dup intron variant NM_001408513.1:c.578-447dup intron variant NM_001408514.1:c.578-447dup intron variant NM_007294.3:c.4052dupT frameshift NM_007297.4:c.3911dup NP_009228.2:p.Leu1304fs frameshift NM_007298.4:c.788-447dup intron variant NM_007299.4:c.788-447dup intron variant NM_007300.4:c.4052dup NP_009231.2:p.Leu1351fs frameshift NR_027676.1:n.4187dup NC_000017.11:g.43091480dup NC_000017.10:g.41243497dup NG_005905.2:g.126505dup NG_087068.1:g.462dup LRG_292:g.126505dup LRG_292t1:c.4051dup LRG_292p1:p.Leu1351Phefs U14680.1:n.4171_4172insT - Protein change
- L1351fs, L1304fs, L1223fs, L1239fs, L1240fs, L1283fs, L1284fs, L1310fs, L1325fs, L1183fs, L1281fs, L1224fs, L1262fs, L1263fs, L1324fs, L1350fs, L483fs, L1055fs, L1280fs, L1303fs, L1309fs, L1348fs
- Other names
- 4171insT
- Canonical SPDI
- NC_000017.11:43091478:AA:AAA
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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 |
12940 | 14730 | |
LOC126862571 | - | - | - | GRCh38 | - | 1638 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
reviewed by expert panel
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Sep 8, 2016 | RCV000112234.11 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300061.2
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
(Dec 23, 2003)
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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: SCV000144948.1
First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
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 rs80357779 ...
HelpRecord last updated Jul 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.