ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5268_5269insC (p.Asp1757fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5268_5269insC (p.Asp1757fs)
Variation ID: 96946 Accession: VCV000096946.3
- Type and length
-
Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43057060-43057061 (GRCh38) [ NCBI UCSC ] 17: 41209077-41209078 (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 27, 2014 Sep 27, 2014 Dec 15, 2017 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5268_5269insC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1757fs frameshift NM_001407571.1:c.5055_5056insC NP_001394500.1:p.Asp1686Argfs frameshift NM_001407581.1:c.5334_5335insC NP_001394510.1:p.Asp1779Argfs frameshift NM_001407582.1:c.5334_5335insC NP_001394511.1:p.Asp1779Argfs frameshift NM_001407583.1:c.5331_5332insC NP_001394512.1:p.Asp1778Argfs frameshift NM_001407585.1:c.5331_5332insC NP_001394514.1:p.Asp1778Argfs frameshift NM_001407587.1:c.5331_5332insC NP_001394516.1:p.Asp1778Argfs frameshift NM_001407590.1:c.5328_5329insC NP_001394519.1:p.Asp1777Argfs frameshift NM_001407591.1:c.5328_5329insC NP_001394520.1:p.Asp1777Argfs frameshift NM_001407593.1:c.5268_5269insC NP_001394522.1:p.Asp1757Argfs frameshift NM_001407594.1:c.5268_5269insC NP_001394523.1:p.Asp1757Argfs frameshift NM_001407596.1:c.5268_5269insC NP_001394525.1:p.Asp1757Argfs frameshift NM_001407597.1:c.5268_5269insC NP_001394526.1:p.Asp1757Argfs frameshift NM_001407598.1:c.5268_5269insC NP_001394527.1:p.Asp1757Argfs frameshift NM_001407602.1:c.5268_5269insC NP_001394531.1:p.Asp1757Argfs frameshift NM_001407603.1:c.5268_5269insC NP_001394532.1:p.Asp1757Argfs frameshift NM_001407605.1:c.5268_5269insC NP_001394534.1:p.Asp1757Argfs frameshift NM_001407610.1:c.5265_5266insC NP_001394539.1:p.Asp1756Argfs frameshift NM_001407611.1:c.5265_5266insC NP_001394540.1:p.Asp1756Argfs frameshift NM_001407612.1:c.5265_5266insC NP_001394541.1:p.Asp1756Argfs frameshift NM_001407613.1:c.5265_5266insC NP_001394542.1:p.Asp1756Argfs frameshift NM_001407614.1:c.5265_5266insC NP_001394543.1:p.Asp1756Argfs frameshift NM_001407615.1:c.5265_5266insC NP_001394544.1:p.Asp1756Argfs frameshift NM_001407616.1:c.5265_5266insC NP_001394545.1:p.Asp1756Argfs frameshift NM_001407617.1:c.5265_5266insC NP_001394546.1:p.Asp1756Argfs frameshift NM_001407618.1:c.5265_5266insC NP_001394547.1:p.Asp1756Argfs frameshift NM_001407619.1:c.5265_5266insC NP_001394548.1:p.Asp1756Argfs frameshift NM_001407620.1:c.5265_5266insC NP_001394549.1:p.Asp1756Argfs frameshift NM_001407621.1:c.5265_5266insC NP_001394550.1:p.Asp1756Argfs frameshift NM_001407622.1:c.5265_5266insC NP_001394551.1:p.Asp1756Argfs frameshift NM_001407623.1:c.5265_5266insC NP_001394552.1:p.Asp1756Argfs frameshift NM_001407624.1:c.5265_5266insC NP_001394553.1:p.Asp1756Argfs frameshift NM_001407625.1:c.5265_5266insC NP_001394554.1:p.Asp1756Argfs frameshift NM_001407626.1:c.5265_5266insC NP_001394555.1:p.Asp1756Argfs frameshift NM_001407627.1:c.5262_5263insC NP_001394556.1:p.Asp1755Argfs frameshift NM_001407628.1:c.5262_5263insC NP_001394557.1:p.Asp1755Argfs frameshift NM_001407629.1:c.5262_5263insC NP_001394558.1:p.Asp1755Argfs frameshift NM_001407630.1:c.5262_5263insC NP_001394559.1:p.Asp1755Argfs frameshift NM_001407631.1:c.5262_5263insC NP_001394560.1:p.Asp1755Argfs frameshift NM_001407632.1:c.5262_5263insC NP_001394561.1:p.Asp1755Argfs frameshift NM_001407633.1:c.5262_5263insC NP_001394562.1:p.Asp1755Argfs frameshift NM_001407634.1:c.5262_5263insC NP_001394563.1:p.Asp1755Argfs frameshift NM_001407635.1:c.5262_5263insC NP_001394564.1:p.Asp1755Argfs frameshift NM_001407636.1:c.5262_5263insC NP_001394565.1:p.Asp1755Argfs frameshift NM_001407637.1:c.5262_5263insC NP_001394566.1:p.Asp1755Argfs frameshift NM_001407638.1:c.5262_5263insC NP_001394567.1:p.Asp1755Argfs frameshift NM_001407639.1:c.5262_5263insC NP_001394568.1:p.Asp1755Argfs frameshift NM_001407640.1:c.5262_5263insC NP_001394569.1:p.Asp1755Argfs frameshift NM_001407641.1:c.5262_5263insC NP_001394570.1:p.Asp1755Argfs frameshift NM_001407642.1:c.5262_5263insC NP_001394571.1:p.Asp1755Argfs frameshift NM_001407644.1:c.5259_5260insC NP_001394573.1:p.Asp1754Argfs frameshift NM_001407645.1:c.5259_5260insC NP_001394574.1:p.Asp1754Argfs frameshift NM_001407646.1:c.5256_5257insC NP_001394575.1:p.Asp1753Argfs frameshift NM_001407647.1:c.5253_5254insC NP_001394576.1:p.Asp1752Argfs frameshift NM_001407648.1:c.5211_5212insC NP_001394577.1:p.Asp1738Argfs frameshift NM_001407649.1:c.5208_5209insC NP_001394578.1:p.Asp1737Argfs frameshift NM_001407652.1:c.5190_5191insC NP_001394581.1:p.Asp1731Argfs frameshift NM_001407653.1:c.5190_5191insC NP_001394582.1:p.Asp1731Argfs frameshift NM_001407654.1:c.5190_5191insC NP_001394583.1:p.Asp1731Argfs frameshift NM_001407655.1:c.5190_5191insC NP_001394584.1:p.Asp1731Argfs frameshift NM_001407656.1:c.5187_5188insC NP_001394585.1:p.Asp1730Argfs frameshift NM_001407657.1:c.5187_5188insC NP_001394586.1:p.Asp1730Argfs frameshift NM_001407658.1:c.5187_5188insC NP_001394587.1:p.Asp1730Argfs frameshift NM_001407659.1:c.5184_5185insC NP_001394588.1:p.Asp1729Argfs frameshift NM_001407660.1:c.5184_5185insC NP_001394589.1:p.Asp1729Argfs frameshift NM_001407661.1:c.5184_5185insC NP_001394590.1:p.Asp1729Argfs frameshift NM_001407662.1:c.5184_5185insC NP_001394591.1:p.Asp1729Argfs frameshift NM_001407663.1:c.5184_5185insC NP_001394592.1:p.Asp1729Argfs frameshift NM_001407664.1:c.5145_5146insC NP_001394593.1:p.Asp1716Argfs frameshift NM_001407665.1:c.5145_5146insC NP_001394594.1:p.Asp1716Argfs frameshift NM_001407666.1:c.5145_5146insC NP_001394595.1:p.Asp1716Argfs frameshift NM_001407667.1:c.5145_5146insC NP_001394596.1:p.Asp1716Argfs frameshift NM_001407668.1:c.5145_5146insC NP_001394597.1:p.Asp1716Argfs frameshift NM_001407669.1:c.5145_5146insC NP_001394598.1:p.Asp1716Argfs frameshift NM_001407670.1:c.5142_5143insC NP_001394599.1:p.Asp1715Argfs frameshift NM_001407671.1:c.5142_5143insC NP_001394600.1:p.Asp1715Argfs frameshift NM_001407672.1:c.5142_5143insC NP_001394601.1:p.Asp1715Argfs frameshift NM_001407673.1:c.5142_5143insC NP_001394602.1:p.Asp1715Argfs frameshift NM_001407674.1:c.5142_5143insC NP_001394603.1:p.Asp1715Argfs frameshift NM_001407675.1:c.5142_5143insC NP_001394604.1:p.Asp1715Argfs frameshift NM_001407676.1:c.5142_5143insC NP_001394605.1:p.Asp1715Argfs frameshift NM_001407677.1:c.5142_5143insC NP_001394606.1:p.Asp1715Argfs frameshift NM_001407678.1:c.5142_5143insC NP_001394607.1:p.Asp1715Argfs frameshift NM_001407679.1:c.5142_5143insC NP_001394608.1:p.Asp1715Argfs frameshift NM_001407680.1:c.5142_5143insC NP_001394609.1:p.Asp1715Argfs frameshift NM_001407681.1:c.5139_5140insC NP_001394610.1:p.Asp1714Argfs frameshift NM_001407682.1:c.5139_5140insC NP_001394611.1:p.Asp1714Argfs frameshift NM_001407683.1:c.5139_5140insC NP_001394612.1:p.Asp1714Argfs frameshift NM_001407684.1:c.5268_5269insC NP_001394613.1:p.Asp1757Argfs frameshift NM_001407685.1:c.5139_5140insC NP_001394614.1:p.Asp1714Argfs frameshift NM_001407686.1:c.5139_5140insC NP_001394615.1:p.Asp1714Argfs frameshift NM_001407687.1:c.5139_5140insC NP_001394616.1:p.Asp1714Argfs frameshift NM_001407688.1:c.5139_5140insC NP_001394617.1:p.Asp1714Argfs frameshift NM_001407689.1:c.5139_5140insC NP_001394618.1:p.Asp1714Argfs frameshift NM_001407690.1:c.5136_5137insC NP_001394619.1:p.Asp1713Argfs frameshift NM_001407691.1:c.5136_5137insC NP_001394620.1:p.Asp1713Argfs frameshift NM_001407692.1:c.5127_5128insC NP_001394621.1:p.Asp1710Argfs frameshift NM_001407694.1:c.5127_5128insC NP_001394623.1:p.Asp1710Argfs frameshift NM_001407695.1:c.5127_5128insC NP_001394624.1:p.Asp1710Argfs frameshift NM_001407696.1:c.5127_5128insC NP_001394625.1:p.Asp1710Argfs frameshift NM_001407697.1:c.5127_5128insC NP_001394626.1:p.Asp1710Argfs frameshift NM_001407698.1:c.5127_5128insC NP_001394627.1:p.Asp1710Argfs frameshift NM_001407724.1:c.5127_5128insC NP_001394653.1:p.Asp1710Argfs frameshift NM_001407725.1:c.5127_5128insC NP_001394654.1:p.Asp1710Argfs frameshift NM_001407726.1:c.5127_5128insC NP_001394655.1:p.Asp1710Argfs frameshift NM_001407727.1:c.5127_5128insC NP_001394656.1:p.Asp1710Argfs frameshift NM_001407728.1:c.5127_5128insC NP_001394657.1:p.Asp1710Argfs frameshift NM_001407729.1:c.5127_5128insC NP_001394658.1:p.Asp1710Argfs frameshift NM_001407730.1:c.5127_5128insC NP_001394659.1:p.Asp1710Argfs frameshift NM_001407731.1:c.5127_5128insC NP_001394660.1:p.Asp1710Argfs frameshift NM_001407732.1:c.5124_5125insC NP_001394661.1:p.Asp1709Argfs frameshift NM_001407733.1:c.5124_5125insC NP_001394662.1:p.Asp1709Argfs frameshift NM_001407734.1:c.5124_5125insC NP_001394663.1:p.Asp1709Argfs frameshift NM_001407735.1:c.5124_5125insC NP_001394664.1:p.Asp1709Argfs frameshift NM_001407736.1:c.5124_5125insC NP_001394665.1:p.Asp1709Argfs frameshift NM_001407737.1:c.5124_5125insC NP_001394666.1:p.Asp1709Argfs frameshift NM_001407738.1:c.5124_5125insC NP_001394667.1:p.Asp1709Argfs frameshift NM_001407739.1:c.5124_5125insC NP_001394668.1:p.Asp1709Argfs frameshift NM_001407740.1:c.5124_5125insC NP_001394669.1:p.Asp1709Argfs frameshift NM_001407741.1:c.5124_5125insC NP_001394670.1:p.Asp1709Argfs frameshift NM_001407742.1:c.5124_5125insC NP_001394671.1:p.Asp1709Argfs frameshift NM_001407743.1:c.5124_5125insC NP_001394672.1:p.Asp1709Argfs frameshift NM_001407744.1:c.5124_5125insC NP_001394673.1:p.Asp1709Argfs frameshift NM_001407745.1:c.5124_5125insC NP_001394674.1:p.Asp1709Argfs frameshift NM_001407746.1:c.5124_5125insC NP_001394675.1:p.Asp1709Argfs frameshift NM_001407747.1:c.5124_5125insC NP_001394676.1:p.Asp1709Argfs frameshift NM_001407748.1:c.5124_5125insC NP_001394677.1:p.Asp1709Argfs frameshift NM_001407749.1:c.5124_5125insC NP_001394678.1:p.Asp1709Argfs frameshift NM_001407750.1:c.5124_5125insC NP_001394679.1:p.Asp1709Argfs frameshift NM_001407751.1:c.5124_5125insC NP_001394680.1:p.Asp1709Argfs frameshift NM_001407752.1:c.5124_5125insC NP_001394681.1:p.Asp1709Argfs frameshift NM_001407838.1:c.5121_5122insC NP_001394767.1:p.Asp1708Argfs frameshift NM_001407839.1:c.5121_5122insC NP_001394768.1:p.Asp1708Argfs frameshift NM_001407841.1:c.5121_5122insC NP_001394770.1:p.Asp1708Argfs frameshift NM_001407842.1:c.5121_5122insC NP_001394771.1:p.Asp1708Argfs frameshift NM_001407843.1:c.5121_5122insC NP_001394772.1:p.Asp1708Argfs frameshift NM_001407844.1:c.5121_5122insC NP_001394773.1:p.Asp1708Argfs frameshift NM_001407845.1:c.5121_5122insC NP_001394774.1:p.Asp1708Argfs frameshift NM_001407846.1:c.5121_5122insC NP_001394775.1:p.Asp1708Argfs frameshift NM_001407847.1:c.5121_5122insC NP_001394776.1:p.Asp1708Argfs frameshift NM_001407848.1:c.5121_5122insC NP_001394777.1:p.Asp1708Argfs frameshift NM_001407849.1:c.5121_5122insC NP_001394778.1:p.Asp1708Argfs frameshift NM_001407850.1:c.5121_5122insC NP_001394779.1:p.Asp1708Argfs frameshift NM_001407851.1:c.5121_5122insC NP_001394780.1:p.Asp1708Argfs frameshift NM_001407852.1:c.5121_5122insC NP_001394781.1:p.Asp1708Argfs frameshift NM_001407853.1:c.5121_5122insC NP_001394782.1:p.Asp1708Argfs frameshift NM_001407854.1:c.5268_5269insC NP_001394783.1:p.Asp1757Argfs frameshift NM_001407858.1:c.5265_5266insC NP_001394787.1:p.Asp1756Argfs frameshift NM_001407859.1:c.5265_5266insC NP_001394788.1:p.Asp1756Argfs frameshift NM_001407860.1:c.5265_5266insC NP_001394789.1:p.Asp1756Argfs frameshift NM_001407861.1:c.5262_5263insC NP_001394790.1:p.Asp1755Argfs frameshift NM_001407862.1:c.5067_5068insC NP_001394791.1:p.Asp1690Argfs frameshift NM_001407863.1:c.5064_5065insC NP_001394792.1:p.Asp1689Argfs frameshift NM_001407874.1:c.5061_5062insC NP_001394803.1:p.Asp1688Argfs frameshift NM_001407875.1:c.5061_5062insC NP_001394804.1:p.Asp1688Argfs frameshift NM_001407879.1:c.5058_5059insC NP_001394808.1:p.Asp1687Argfs frameshift NM_001407881.1:c.5058_5059insC NP_001394810.1:p.Asp1687Argfs frameshift NM_001407882.1:c.5058_5059insC NP_001394811.1:p.Asp1687Argfs frameshift NM_001407884.1:c.5058_5059insC NP_001394813.1:p.Asp1687Argfs frameshift NM_001407885.1:c.5058_5059insC NP_001394814.1:p.Asp1687Argfs frameshift NM_001407886.1:c.5058_5059insC NP_001394815.1:p.Asp1687Argfs frameshift NM_001407887.1:c.5058_5059insC NP_001394816.1:p.Asp1687Argfs frameshift NM_001407889.1:c.5058_5059insC NP_001394818.1:p.Asp1687Argfs frameshift NM_001407894.1:c.5055_5056insC NP_001394823.1:p.Asp1686Argfs frameshift NM_001407895.1:c.5055_5056insC NP_001394824.1:p.Asp1686Argfs frameshift NM_001407896.1:c.5055_5056insC NP_001394825.1:p.Asp1686Argfs frameshift NM_001407897.1:c.5055_5056insC NP_001394826.1:p.Asp1686Argfs frameshift NM_001407898.1:c.5055_5056insC NP_001394827.1:p.Asp1686Argfs frameshift NM_001407899.1:c.5055_5056insC NP_001394828.1:p.Asp1686Argfs frameshift NM_001407900.1:c.5055_5056insC NP_001394829.1:p.Asp1686Argfs frameshift NM_001407902.1:c.5055_5056insC NP_001394831.1:p.Asp1686Argfs frameshift NM_001407904.1:c.5055_5056insC NP_001394833.1:p.Asp1686Argfs frameshift NM_001407906.1:c.5055_5056insC NP_001394835.1:p.Asp1686Argfs frameshift NM_001407907.1:c.5055_5056insC NP_001394836.1:p.Asp1686Argfs frameshift NM_001407908.1:c.5055_5056insC NP_001394837.1:p.Asp1686Argfs frameshift NM_001407909.1:c.5055_5056insC NP_001394838.1:p.Asp1686Argfs frameshift NM_001407910.1:c.5055_5056insC NP_001394839.1:p.Asp1686Argfs frameshift NM_001407915.1:c.5052_5053insC NP_001394844.1:p.Asp1685Argfs frameshift NM_001407916.1:c.5052_5053insC NP_001394845.1:p.Asp1685Argfs frameshift NM_001407917.1:c.5052_5053insC NP_001394846.1:p.Asp1685Argfs frameshift NM_001407918.1:c.5052_5053insC NP_001394847.1:p.Asp1685Argfs frameshift NM_001407919.1:c.5145_5146insC NP_001394848.1:p.Asp1716Argfs frameshift NM_001407920.1:c.5004_5005insC NP_001394849.1:p.Asp1669Argfs frameshift NM_001407921.1:c.5004_5005insC NP_001394850.1:p.Asp1669Argfs frameshift NM_001407922.1:c.5004_5005insC NP_001394851.1:p.Asp1669Argfs frameshift NM_001407923.1:c.5004_5005insC NP_001394852.1:p.Asp1669Argfs frameshift NM_001407924.1:c.5004_5005insC NP_001394853.1:p.Asp1669Argfs frameshift NM_001407925.1:c.5004_5005insC NP_001394854.1:p.Asp1669Argfs frameshift NM_001407926.1:c.5004_5005insC NP_001394855.1:p.Asp1669Argfs frameshift NM_001407927.1:c.5001_5002insC NP_001394856.1:p.Asp1668Argfs frameshift NM_001407928.1:c.5001_5002insC NP_001394857.1:p.Asp1668Argfs frameshift NM_001407929.1:c.5001_5002insC NP_001394858.1:p.Asp1668Argfs frameshift NM_001407930.1:c.5001_5002insC NP_001394859.1:p.Asp1668Argfs frameshift NM_001407931.1:c.5001_5002insC NP_001394860.1:p.Asp1668Argfs frameshift NM_001407932.1:c.5001_5002insC NP_001394861.1:p.Asp1668Argfs frameshift NM_001407933.1:c.5001_5002insC NP_001394862.1:p.Asp1668Argfs frameshift NM_001407934.1:c.4998_4999insC NP_001394863.1:p.Asp1667Argfs frameshift NM_001407935.1:c.4998_4999insC NP_001394864.1:p.Asp1667Argfs frameshift NM_001407936.1:c.4998_4999insC NP_001394865.1:p.Asp1667Argfs frameshift NM_001407937.1:c.5145_5146insC NP_001394866.1:p.Asp1716Argfs frameshift NM_001407938.1:c.5145_5146insC NP_001394867.1:p.Asp1716Argfs frameshift NM_001407939.1:c.5142_5143insC NP_001394868.1:p.Asp1715Argfs frameshift NM_001407940.1:c.5142_5143insC NP_001394869.1:p.Asp1715Argfs frameshift NM_001407941.1:c.5139_5140insC NP_001394870.1:p.Asp1714Argfs frameshift NM_001407942.1:c.5127_5128insC NP_001394871.1:p.Asp1710Argfs frameshift NM_001407943.1:c.5124_5125insC NP_001394872.1:p.Asp1709Argfs frameshift NM_001407944.1:c.5124_5125insC NP_001394873.1:p.Asp1709Argfs frameshift NM_001407945.1:c.5124_5125insC NP_001394874.1:p.Asp1709Argfs frameshift NM_001407946.1:c.4935_4936insC NP_001394875.1:p.Asp1646Argfs frameshift NM_001407947.1:c.4935_4936insC NP_001394876.1:p.Asp1646Argfs frameshift NM_001407948.1:c.4935_4936insC NP_001394877.1:p.Asp1646Argfs frameshift NM_001407949.1:c.4935_4936insC NP_001394878.1:p.Asp1646Argfs frameshift NM_001407950.1:c.4932_4933insC NP_001394879.1:p.Asp1645Argfs frameshift NM_001407951.1:c.4932_4933insC NP_001394880.1:p.Asp1645Argfs frameshift NM_001407952.1:c.4932_4933insC NP_001394881.1:p.Asp1645Argfs frameshift NM_001407953.1:c.4932_4933insC NP_001394882.1:p.Asp1645Argfs frameshift NM_001407954.1:c.4932_4933insC NP_001394883.1:p.Asp1645Argfs frameshift NM_001407955.1:c.4932_4933insC NP_001394884.1:p.Asp1645Argfs frameshift NM_001407956.1:c.4929_4930insC NP_001394885.1:p.Asp1644Argfs frameshift NM_001407957.1:c.4929_4930insC NP_001394886.1:p.Asp1644Argfs frameshift NM_001407958.1:c.4929_4930insC NP_001394887.1:p.Asp1644Argfs frameshift NM_001407959.1:c.4887_4888insC NP_001394888.1:p.Asp1630Argfs frameshift NM_001407960.1:c.4884_4885insC NP_001394889.1:p.Asp1629Argfs frameshift NM_001407962.1:c.4884_4885insC NP_001394891.1:p.Asp1629Argfs frameshift NM_001407963.1:c.4881_4882insC NP_001394892.1:p.Asp1628Argfs frameshift NM_001407964.1:c.4806_4807insC NP_001394893.1:p.Asp1603Argfs frameshift NM_001407965.1:c.4761_4762insC NP_001394894.1:p.Asp1588Argfs frameshift NM_001407966.1:c.4380_4381insC NP_001394895.1:p.Asp1461Argfs frameshift NM_001407967.1:c.4377_4378insC NP_001394896.1:p.Asp1460Argfs frameshift NM_001407968.1:c.2664_2665insC NP_001394897.1:p.Asp889Argfs frameshift NM_001407969.1:c.2661_2662insC NP_001394898.1:p.Asp888Argfs frameshift NM_001407970.1:c.2025_2026insC NP_001394899.1:p.Asp676Argfs frameshift NM_001407971.1:c.2025_2026insC NP_001394900.1:p.Asp676Argfs frameshift NM_001407972.1:c.2022_2023insC NP_001394901.1:p.Asp675Argfs frameshift NM_001407973.1:c.1959_1960insC NP_001394902.1:p.Asp654Argfs frameshift NM_001407974.1:c.1959_1960insC NP_001394903.1:p.Asp654Argfs frameshift NM_001407975.1:c.1959_1960insC NP_001394904.1:p.Asp654Argfs frameshift NM_001407976.1:c.1959_1960insC NP_001394905.1:p.Asp654Argfs frameshift NM_001407977.1:c.1959_1960insC NP_001394906.1:p.Asp654Argfs frameshift NM_001407978.1:c.1959_1960insC NP_001394907.1:p.Asp654Argfs frameshift NM_001407979.1:c.1956_1957insC NP_001394908.1:p.Asp653Argfs frameshift NM_001407980.1:c.1956_1957insC NP_001394909.1:p.Asp653Argfs frameshift NM_001407981.1:c.1956_1957insC NP_001394910.1:p.Asp653Argfs frameshift NM_001407982.1:c.1956_1957insC NP_001394911.1:p.Asp653Argfs frameshift NM_001407983.1:c.1956_1957insC NP_001394912.1:p.Asp653Argfs frameshift NM_001407984.1:c.1956_1957insC NP_001394913.1:p.Asp653Argfs frameshift NM_001407985.1:c.1956_1957insC NP_001394914.1:p.Asp653Argfs frameshift NM_001407986.1:c.1956_1957insC NP_001394915.1:p.Asp653Argfs frameshift NM_001407990.1:c.1956_1957insC NP_001394919.1:p.Asp653Argfs frameshift NM_001407991.1:c.1956_1957insC NP_001394920.1:p.Asp653Argfs frameshift NM_001407992.1:c.1956_1957insC NP_001394921.1:p.Asp653Argfs frameshift NM_001407993.1:c.1956_1957insC NP_001394922.1:p.Asp653Argfs frameshift NM_001408392.1:c.1953_1954insC NP_001395321.1:p.Asp652Argfs frameshift NM_001408396.1:c.1953_1954insC NP_001395325.1:p.Asp652Argfs frameshift NM_001408397.1:c.1953_1954insC NP_001395326.1:p.Asp652Argfs frameshift NM_001408398.1:c.1953_1954insC NP_001395327.1:p.Asp652Argfs frameshift NM_001408399.1:c.1953_1954insC NP_001395328.1:p.Asp652Argfs frameshift NM_001408400.1:c.1953_1954insC NP_001395329.1:p.Asp652Argfs frameshift NM_001408401.1:c.1953_1954insC NP_001395330.1:p.Asp652Argfs frameshift NM_001408402.1:c.1953_1954insC NP_001395331.1:p.Asp652Argfs frameshift NM_001408403.1:c.1953_1954insC NP_001395332.1:p.Asp652Argfs frameshift NM_001408404.1:c.1953_1954insC NP_001395333.1:p.Asp652Argfs frameshift NM_001408406.1:c.1950_1951insC NP_001395335.1:p.Asp651Argfs frameshift NM_001408407.1:c.1950_1951insC NP_001395336.1:p.Asp651Argfs frameshift NM_001408408.1:c.1950_1951insC NP_001395337.1:p.Asp651Argfs frameshift NM_001408409.1:c.1947_1948insC NP_001395338.1:p.Asp650Argfs frameshift NM_001408410.1:c.1884_1885insC NP_001395339.1:p.Asp629Argfs frameshift NM_001408411.1:c.1881_1882insC NP_001395340.1:p.Asp628Argfs frameshift NM_001408412.1:c.1878_1879insC NP_001395341.1:p.Asp627Argfs frameshift NM_001408413.1:c.1878_1879insC NP_001395342.1:p.Asp627Argfs frameshift NM_001408414.1:c.1878_1879insC NP_001395343.1:p.Asp627Argfs frameshift NM_001408415.1:c.1878_1879insC NP_001395344.1:p.Asp627Argfs frameshift NM_001408416.1:c.1878_1879insC NP_001395345.1:p.Asp627Argfs frameshift NM_001408418.1:c.1842_1843insC NP_001395347.1:p.Asp615Argfs frameshift NM_001408419.1:c.1842_1843insC NP_001395348.1:p.Asp615Argfs frameshift NM_001408420.1:c.1842_1843insC NP_001395349.1:p.Asp615Argfs frameshift NM_001408421.1:c.1839_1840insC NP_001395350.1:p.Asp614Argfs frameshift NM_001408422.1:c.1839_1840insC NP_001395351.1:p.Asp614Argfs frameshift NM_001408423.1:c.1839_1840insC NP_001395352.1:p.Asp614Argfs frameshift NM_001408424.1:c.1839_1840insC NP_001395353.1:p.Asp614Argfs frameshift NM_001408425.1:c.1836_1837insC NP_001395354.1:p.Asp613Argfs frameshift NM_001408426.1:c.1836_1837insC NP_001395355.1:p.Asp613Argfs frameshift NM_001408427.1:c.1836_1837insC NP_001395356.1:p.Asp613Argfs frameshift NM_001408428.1:c.1836_1837insC NP_001395357.1:p.Asp613Argfs frameshift NM_001408429.1:c.1836_1837insC NP_001395358.1:p.Asp613Argfs frameshift NM_001408430.1:c.1836_1837insC NP_001395359.1:p.Asp613Argfs frameshift NM_001408431.1:c.1836_1837insC NP_001395360.1:p.Asp613Argfs frameshift NM_001408432.1:c.1833_1834insC NP_001395361.1:p.Asp612Argfs frameshift NM_001408433.1:c.1833_1834insC NP_001395362.1:p.Asp612Argfs frameshift NM_001408434.1:c.1833_1834insC NP_001395363.1:p.Asp612Argfs frameshift NM_001408435.1:c.1833_1834insC NP_001395364.1:p.Asp612Argfs frameshift NM_001408436.1:c.1833_1834insC NP_001395365.1:p.Asp612Argfs frameshift NM_001408437.1:c.1833_1834insC NP_001395366.1:p.Asp612Argfs frameshift NM_001408438.1:c.1833_1834insC NP_001395367.1:p.Asp612Argfs frameshift NM_001408439.1:c.1833_1834insC NP_001395368.1:p.Asp612Argfs frameshift NM_001408440.1:c.1833_1834insC NP_001395369.1:p.Asp612Argfs frameshift NM_001408441.1:c.1833_1834insC NP_001395370.1:p.Asp612Argfs frameshift NM_001408442.1:c.1833_1834insC NP_001395371.1:p.Asp612Argfs frameshift NM_001408443.1:c.1833_1834insC NP_001395372.1:p.Asp612Argfs frameshift NM_001408444.1:c.1833_1834insC NP_001395373.1:p.Asp612Argfs frameshift NM_001408445.1:c.1830_1831insC NP_001395374.1:p.Asp611Argfs frameshift NM_001408446.1:c.1830_1831insC NP_001395375.1:p.Asp611Argfs frameshift NM_001408447.1:c.1830_1831insC NP_001395376.1:p.Asp611Argfs frameshift NM_001408448.1:c.1830_1831insC NP_001395377.1:p.Asp611Argfs frameshift NM_001408450.1:c.1830_1831insC NP_001395379.1:p.Asp611Argfs frameshift NM_001408451.1:c.1824_1825insC NP_001395380.1:p.Asp609Argfs frameshift NM_001408452.1:c.1818_1819insC NP_001395381.1:p.Asp607Argfs frameshift NM_001408453.1:c.1818_1819insC NP_001395382.1:p.Asp607Argfs frameshift NM_001408454.1:c.1818_1819insC NP_001395383.1:p.Asp607Argfs frameshift NM_001408455.1:c.1818_1819insC NP_001395384.1:p.Asp607Argfs frameshift NM_001408456.1:c.1818_1819insC NP_001395385.1:p.Asp607Argfs frameshift NM_001408457.1:c.1818_1819insC NP_001395386.1:p.Asp607Argfs frameshift NM_001408458.1:c.1815_1816insC NP_001395387.1:p.Asp606Argfs frameshift NM_001408459.1:c.1815_1816insC NP_001395388.1:p.Asp606Argfs frameshift NM_001408460.1:c.1815_1816insC NP_001395389.1:p.Asp606Argfs frameshift NM_001408461.1:c.1815_1816insC NP_001395390.1:p.Asp606Argfs frameshift NM_001408462.1:c.1815_1816insC NP_001395391.1:p.Asp606Argfs frameshift NM_001408463.1:c.1815_1816insC NP_001395392.1:p.Asp606Argfs frameshift NM_001408464.1:c.1815_1816insC NP_001395393.1:p.Asp606Argfs frameshift NM_001408465.1:c.1815_1816insC NP_001395394.1:p.Asp606Argfs frameshift NM_001408466.1:c.1815_1816insC NP_001395395.1:p.Asp606Argfs frameshift NM_001408467.1:c.1815_1816insC NP_001395396.1:p.Asp606Argfs frameshift NM_001408468.1:c.1812_1813insC NP_001395397.1:p.Asp605Argfs frameshift NM_001408469.1:c.1812_1813insC NP_001395398.1:p.Asp605Argfs frameshift NM_001408470.1:c.1812_1813insC NP_001395399.1:p.Asp605Argfs frameshift NM_001408472.1:c.1956_1957insC NP_001395401.1:p.Asp653Argfs frameshift NM_001408473.1:c.1953_1954insC NP_001395402.1:p.Asp652Argfs frameshift NM_001408474.1:c.1758_1759insC NP_001395403.1:p.Asp587Argfs frameshift NM_001408475.1:c.1755_1756insC NP_001395404.1:p.Asp586Argfs frameshift NM_001408476.1:c.1755_1756insC NP_001395405.1:p.Asp586Argfs frameshift NM_001408478.1:c.1749_1750insC NP_001395407.1:p.Asp584Argfs frameshift NM_001408479.1:c.1749_1750insC NP_001395408.1:p.Asp584Argfs frameshift NM_001408480.1:c.1749_1750insC NP_001395409.1:p.Asp584Argfs frameshift NM_001408481.1:c.1746_1747insC NP_001395410.1:p.Asp583Argfs frameshift NM_001408482.1:c.1746_1747insC NP_001395411.1:p.Asp583Argfs frameshift NM_001408483.1:c.1746_1747insC NP_001395412.1:p.Asp583Argfs frameshift NM_001408484.1:c.1746_1747insC NP_001395413.1:p.Asp583Argfs frameshift NM_001408485.1:c.1746_1747insC NP_001395414.1:p.Asp583Argfs frameshift NM_001408489.1:c.1746_1747insC NP_001395418.1:p.Asp583Argfs frameshift NM_001408490.1:c.1746_1747insC NP_001395419.1:p.Asp583Argfs frameshift NM_001408491.1:c.1746_1747insC NP_001395420.1:p.Asp583Argfs frameshift NM_001408492.1:c.1743_1744insC NP_001395421.1:p.Asp582Argfs frameshift NM_001408493.1:c.1743_1744insC NP_001395422.1:p.Asp582Argfs frameshift NM_001408494.1:c.1719_1720insC NP_001395423.1:p.Asp574Argfs frameshift NM_001408495.1:c.1713_1714insC NP_001395424.1:p.Asp572Argfs frameshift NM_001408496.1:c.1695_1696insC NP_001395425.1:p.Asp566Argfs frameshift NM_001408497.1:c.1695_1696insC NP_001395426.1:p.Asp566Argfs frameshift NM_001408498.1:c.1695_1696insC NP_001395427.1:p.Asp566Argfs frameshift NM_001408499.1:c.1695_1696insC NP_001395428.1:p.Asp566Argfs frameshift NM_001408500.1:c.1695_1696insC NP_001395429.1:p.Asp566Argfs frameshift NM_001408501.1:c.1695_1696insC NP_001395430.1:p.Asp566Argfs frameshift NM_001408502.1:c.1692_1693insC NP_001395431.1:p.Asp565Argfs frameshift NM_001408503.1:c.1692_1693insC NP_001395432.1:p.Asp565Argfs frameshift NM_001408504.1:c.1692_1693insC NP_001395433.1:p.Asp565Argfs frameshift NM_001408505.1:c.1689_1690insC NP_001395434.1:p.Asp564Argfs frameshift NM_001408506.1:c.1632_1633insC NP_001395435.1:p.Asp545Argfs frameshift NM_001408507.1:c.1629_1630insC NP_001395436.1:p.Asp544Argfs frameshift NM_001408508.1:c.1620_1621insC NP_001395437.1:p.Asp541Argfs frameshift NM_001408509.1:c.1617_1618insC NP_001395438.1:p.Asp540Argfs frameshift NM_001408510.1:c.1578_1579insC NP_001395439.1:p.Asp527Argfs frameshift NM_001408511.1:c.1575_1576insC NP_001395440.1:p.Asp526Argfs frameshift NM_001408512.1:c.1455_1456insC NP_001395441.1:p.Asp486Argfs frameshift NM_001408513.1:c.1428_1429insC NP_001395442.1:p.Asp477Argfs frameshift NM_001408514.1:c.1032_1033insC NP_001395443.1:p.Asp345Argfs frameshift NM_007297.4:c.5127_5128insC NP_009228.2:p.Asp1710fs frameshift NM_007298.4:c.1956_1957insC NP_009229.2:p.Asp653Argfs frameshift NM_007299.4:c.1956_1957insC NP_009230.2:p.Asp653fs frameshift NM_007300.4:c.5331_5332insC NP_009231.2:p.Asp1778fs frameshift NM_007304.2:c.1956_1957insC NP_009235.2:p.Asp653Argfs frameshift NR_027676.2:n.5445_5446insC non-coding transcript variant NC_000017.11:g.43057060_43057061insG NC_000017.10:g.41209077_41209078insG NG_005905.2:g.160923_160924insC LRG_292:g.160923_160924insC LRG_292t1:c.5268_5269insC LRG_292p1:p.Asp1757Argfs - Protein change
- D1757fs, D653fs, D1710fs, D1778fs
- Other names
- 5387insC
- Canonical SPDI
- NC_000017.11:43057060::G
-
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.
-
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 |
13029 | 14833 |
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 (2) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000083067.4 |
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: SCV000783375.1 First in ClinVar: Sep 27, 2014 Last updated: Sep 27, 2014 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(May 01, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000115141.3
First in ClinVar: Feb 09, 2014 Last updated: Sep 27, 2014 |
|
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 rs431825414 ...
HelpRecord last updated Oct 08, 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.