ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4162_4163del (p.Gln1388fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4162_4163del (p.Gln1388fs)
Variation ID: 266453 Accession: VCV000266453.7
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43090966-43090967 (GRCh38) [ NCBI UCSC ] 17: 41242983-41242984 (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 Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4162_4163del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1388fs frameshift NM_001407571.1:c.3949_3950delCA NP_001394500.1:p.Gln1317Glufs frameshift NM_001407581.1:c.4162_4163delCA NP_001394510.1:p.Gln1388Glufs frameshift NM_001407582.1:c.4162_4163delCA NP_001394511.1:p.Gln1388Glufs frameshift NM_001407583.1:c.4162_4163delCA NP_001394512.1:p.Gln1388Glufs frameshift NM_001407585.1:c.4162_4163delCA NP_001394514.1:p.Gln1388Glufs frameshift NM_001407587.1:c.4159_4160delCA NP_001394516.1:p.Gln1387Glufs frameshift NM_001407590.1:c.4159_4160delCA NP_001394519.1:p.Gln1387Glufs frameshift NM_001407591.1:c.4159_4160delCA NP_001394520.1:p.Gln1387Glufs frameshift NM_001407593.1:c.4162_4163delCA NP_001394522.1:p.Gln1388Glufs frameshift NM_001407594.1:c.4162_4163delCA NP_001394523.1:p.Gln1388Glufs frameshift NM_001407596.1:c.4162_4163delCA NP_001394525.1:p.Gln1388Glufs frameshift NM_001407597.1:c.4162_4163delCA NP_001394526.1:p.Gln1388Glufs frameshift NM_001407598.1:c.4162_4163delCA NP_001394527.1:p.Gln1388Glufs frameshift NM_001407602.1:c.4162_4163delCA NP_001394531.1:p.Gln1388Glufs frameshift NM_001407603.1:c.4162_4163delCA NP_001394532.1:p.Gln1388Glufs frameshift NM_001407605.1:c.4162_4163delCA NP_001394534.1:p.Gln1388Glufs frameshift NM_001407610.1:c.4159_4160delCA NP_001394539.1:p.Gln1387Glufs frameshift NM_001407611.1:c.4159_4160delCA NP_001394540.1:p.Gln1387Glufs frameshift NM_001407612.1:c.4159_4160delCA NP_001394541.1:p.Gln1387Glufs frameshift NM_001407613.1:c.4159_4160delCA NP_001394542.1:p.Gln1387Glufs frameshift NM_001407614.1:c.4159_4160delCA NP_001394543.1:p.Gln1387Glufs frameshift NM_001407615.1:c.4159_4160delCA NP_001394544.1:p.Gln1387Glufs frameshift NM_001407616.1:c.4162_4163delCA NP_001394545.1:p.Gln1388Glufs frameshift NM_001407617.1:c.4162_4163delCA NP_001394546.1:p.Gln1388Glufs frameshift NM_001407618.1:c.4162_4163delCA NP_001394547.1:p.Gln1388Glufs frameshift NM_001407619.1:c.4162_4163delCA NP_001394548.1:p.Gln1388Glufs frameshift NM_001407620.1:c.4162_4163delCA NP_001394549.1:p.Gln1388Glufs frameshift NM_001407621.1:c.4162_4163delCA NP_001394550.1:p.Gln1388Glufs frameshift NM_001407622.1:c.4162_4163delCA NP_001394551.1:p.Gln1388Glufs frameshift NM_001407623.1:c.4162_4163delCA NP_001394552.1:p.Gln1388Glufs frameshift NM_001407624.1:c.4162_4163delCA NP_001394553.1:p.Gln1388Glufs frameshift NM_001407625.1:c.4162_4163delCA NP_001394554.1:p.Gln1388Glufs frameshift NM_001407626.1:c.4162_4163delCA NP_001394555.1:p.Gln1388Glufs frameshift NM_001407627.1:c.4159_4160delCA NP_001394556.1:p.Gln1387Glufs frameshift NM_001407628.1:c.4159_4160delCA NP_001394557.1:p.Gln1387Glufs frameshift NM_001407629.1:c.4159_4160delCA NP_001394558.1:p.Gln1387Glufs frameshift NM_001407630.1:c.4159_4160delCA NP_001394559.1:p.Gln1387Glufs frameshift NM_001407631.1:c.4159_4160delCA NP_001394560.1:p.Gln1387Glufs frameshift NM_001407632.1:c.4159_4160delCA NP_001394561.1:p.Gln1387Glufs frameshift NM_001407633.1:c.4159_4160delCA NP_001394562.1:p.Gln1387Glufs frameshift NM_001407634.1:c.4159_4160delCA NP_001394563.1:p.Gln1387Glufs frameshift NM_001407635.1:c.4159_4160delCA NP_001394564.1:p.Gln1387Glufs frameshift NM_001407636.1:c.4159_4160delCA NP_001394565.1:p.Gln1387Glufs frameshift NM_001407637.1:c.4159_4160delCA NP_001394566.1:p.Gln1387Glufs frameshift NM_001407638.1:c.4159_4160delCA NP_001394567.1:p.Gln1387Glufs frameshift NM_001407639.1:c.4162_4163delCA NP_001394568.1:p.Gln1388Glufs frameshift NM_001407640.1:c.4162_4163delCA NP_001394569.1:p.Gln1388Glufs frameshift NM_001407641.1:c.4162_4163delCA NP_001394570.1:p.Gln1388Glufs frameshift NM_001407642.1:c.4162_4163delCA NP_001394571.1:p.Gln1388Glufs frameshift NM_001407644.1:c.4159_4160delCA NP_001394573.1:p.Gln1387Glufs frameshift NM_001407645.1:c.4159_4160delCA NP_001394574.1:p.Gln1387Glufs frameshift NM_001407646.1:c.4153_4154delCA NP_001394575.1:p.Gln1385Glufs frameshift NM_001407647.1:c.4153_4154delCA NP_001394576.1:p.Gln1385Glufs frameshift NM_001407648.1:c.4039_4040delCA NP_001394577.1:p.Gln1347Glufs frameshift NM_001407649.1:c.4036_4037delCA NP_001394578.1:p.Gln1346Glufs frameshift NM_001407652.1:c.4162_4163delCA NP_001394581.1:p.Gln1388Glufs frameshift NM_001407653.1:c.4084_4085delCA NP_001394582.1:p.Gln1362Glufs frameshift NM_001407654.1:c.4084_4085delCA NP_001394583.1:p.Gln1362Glufs frameshift NM_001407655.1:c.4084_4085delCA NP_001394584.1:p.Gln1362Glufs frameshift NM_001407656.1:c.4084_4085delCA NP_001394585.1:p.Gln1362Glufs frameshift NM_001407657.1:c.4084_4085delCA NP_001394586.1:p.Gln1362Glufs frameshift NM_001407658.1:c.4084_4085delCA NP_001394587.1:p.Gln1362Glufs frameshift NM_001407659.1:c.4081_4082delCA NP_001394588.1:p.Gln1361Glufs frameshift NM_001407660.1:c.4081_4082delCA NP_001394589.1:p.Gln1361Glufs frameshift NM_001407661.1:c.4081_4082delCA NP_001394590.1:p.Gln1361Glufs frameshift NM_001407662.1:c.4081_4082delCA NP_001394591.1:p.Gln1361Glufs frameshift NM_001407663.1:c.4084_4085delCA NP_001394592.1:p.Gln1362Glufs frameshift NM_001407664.1:c.4039_4040delCA NP_001394593.1:p.Gln1347Glufs frameshift NM_001407665.1:c.4039_4040delCA NP_001394594.1:p.Gln1347Glufs frameshift NM_001407666.1:c.4039_4040delCA NP_001394595.1:p.Gln1347Glufs frameshift NM_001407667.1:c.4039_4040delCA NP_001394596.1:p.Gln1347Glufs frameshift NM_001407668.1:c.4039_4040delCA NP_001394597.1:p.Gln1347Glufs frameshift NM_001407669.1:c.4039_4040delCA NP_001394598.1:p.Gln1347Glufs frameshift NM_001407670.1:c.4036_4037delCA NP_001394599.1:p.Gln1346Glufs frameshift NM_001407671.1:c.4036_4037delCA NP_001394600.1:p.Gln1346Glufs frameshift NM_001407672.1:c.4036_4037delCA NP_001394601.1:p.Gln1346Glufs frameshift NM_001407673.1:c.4036_4037delCA NP_001394602.1:p.Gln1346Glufs frameshift NM_001407674.1:c.4039_4040delCA NP_001394603.1:p.Gln1347Glufs frameshift NM_001407675.1:c.4039_4040delCA NP_001394604.1:p.Gln1347Glufs frameshift NM_001407676.1:c.4039_4040delCA NP_001394605.1:p.Gln1347Glufs frameshift NM_001407677.1:c.4039_4040delCA NP_001394606.1:p.Gln1347Glufs frameshift NM_001407678.1:c.4039_4040delCA NP_001394607.1:p.Gln1347Glufs frameshift NM_001407679.1:c.4039_4040delCA NP_001394608.1:p.Gln1347Glufs frameshift NM_001407680.1:c.4039_4040delCA NP_001394609.1:p.Gln1347Glufs frameshift NM_001407681.1:c.4039_4040delCA NP_001394610.1:p.Gln1347Glufs frameshift NM_001407682.1:c.4039_4040delCA NP_001394611.1:p.Gln1347Glufs frameshift NM_001407683.1:c.4039_4040delCA NP_001394612.1:p.Gln1347Glufs frameshift NM_001407684.1:c.4162_4163delCA NP_001394613.1:p.Gln1388Glufs frameshift NM_001407685.1:c.4036_4037delCA NP_001394614.1:p.Gln1346Glufs frameshift NM_001407686.1:c.4036_4037delCA NP_001394615.1:p.Gln1346Glufs frameshift NM_001407687.1:c.4036_4037delCA NP_001394616.1:p.Gln1346Glufs frameshift NM_001407688.1:c.4036_4037delCA NP_001394617.1:p.Gln1346Glufs frameshift NM_001407689.1:c.4036_4037delCA NP_001394618.1:p.Gln1346Glufs frameshift NM_001407690.1:c.4036_4037delCA NP_001394619.1:p.Gln1346Glufs frameshift NM_001407691.1:c.4036_4037delCA NP_001394620.1:p.Gln1346Glufs frameshift NM_001407692.1:c.4021_4022delCA NP_001394621.1:p.Gln1341Glufs frameshift NM_001407694.1:c.4021_4022delCA NP_001394623.1:p.Gln1341Glufs frameshift NM_001407695.1:c.4021_4022delCA NP_001394624.1:p.Gln1341Glufs frameshift NM_001407696.1:c.4021_4022delCA NP_001394625.1:p.Gln1341Glufs frameshift NM_001407697.1:c.4021_4022delCA NP_001394626.1:p.Gln1341Glufs frameshift NM_001407698.1:c.4021_4022delCA NP_001394627.1:p.Gln1341Glufs frameshift NM_001407724.1:c.4021_4022delCA NP_001394653.1:p.Gln1341Glufs frameshift NM_001407725.1:c.4021_4022delCA NP_001394654.1:p.Gln1341Glufs frameshift NM_001407726.1:c.4021_4022delCA NP_001394655.1:p.Gln1341Glufs frameshift NM_001407727.1:c.4021_4022delCA NP_001394656.1:p.Gln1341Glufs frameshift NM_001407728.1:c.4021_4022delCA NP_001394657.1:p.Gln1341Glufs frameshift NM_001407729.1:c.4021_4022delCA NP_001394658.1:p.Gln1341Glufs frameshift NM_001407730.1:c.4021_4022delCA NP_001394659.1:p.Gln1341Glufs frameshift NM_001407731.1:c.4021_4022delCA NP_001394660.1:p.Gln1341Glufs frameshift NM_001407732.1:c.4021_4022delCA NP_001394661.1:p.Gln1341Glufs frameshift NM_001407733.1:c.4021_4022delCA NP_001394662.1:p.Gln1341Glufs frameshift NM_001407734.1:c.4021_4022delCA NP_001394663.1:p.Gln1341Glufs frameshift NM_001407735.1:c.4021_4022delCA NP_001394664.1:p.Gln1341Glufs frameshift NM_001407736.1:c.4021_4022delCA NP_001394665.1:p.Gln1341Glufs frameshift NM_001407737.1:c.4021_4022delCA NP_001394666.1:p.Gln1341Glufs frameshift NM_001407738.1:c.4021_4022delCA NP_001394667.1:p.Gln1341Glufs frameshift NM_001407739.1:c.4021_4022delCA NP_001394668.1:p.Gln1341Glufs frameshift NM_001407740.1:c.4018_4019delCA NP_001394669.1:p.Gln1340Glufs frameshift NM_001407741.1:c.4018_4019delCA NP_001394670.1:p.Gln1340Glufs frameshift NM_001407742.1:c.4018_4019delCA NP_001394671.1:p.Gln1340Glufs frameshift NM_001407743.1:c.4018_4019delCA NP_001394672.1:p.Gln1340Glufs frameshift NM_001407744.1:c.4018_4019delCA NP_001394673.1:p.Gln1340Glufs frameshift NM_001407745.1:c.4018_4019delCA NP_001394674.1:p.Gln1340Glufs frameshift NM_001407746.1:c.4018_4019delCA NP_001394675.1:p.Gln1340Glufs frameshift NM_001407747.1:c.4018_4019delCA NP_001394676.1:p.Gln1340Glufs frameshift NM_001407748.1:c.4018_4019delCA NP_001394677.1:p.Gln1340Glufs frameshift NM_001407749.1:c.4018_4019delCA NP_001394678.1:p.Gln1340Glufs frameshift NM_001407750.1:c.4021_4022delCA NP_001394679.1:p.Gln1341Glufs frameshift NM_001407751.1:c.4021_4022delCA NP_001394680.1:p.Gln1341Glufs frameshift NM_001407752.1:c.4021_4022delCA NP_001394681.1:p.Gln1341Glufs frameshift NM_001407838.1:c.4018_4019delCA NP_001394767.1:p.Gln1340Glufs frameshift NM_001407839.1:c.4018_4019delCA NP_001394768.1:p.Gln1340Glufs frameshift NM_001407841.1:c.4018_4019delCA NP_001394770.1:p.Gln1340Glufs frameshift NM_001407842.1:c.4018_4019delCA NP_001394771.1:p.Gln1340Glufs frameshift NM_001407843.1:c.4018_4019delCA NP_001394772.1:p.Gln1340Glufs frameshift NM_001407844.1:c.4018_4019delCA NP_001394773.1:p.Gln1340Glufs frameshift NM_001407845.1:c.4018_4019delCA NP_001394774.1:p.Gln1340Glufs frameshift NM_001407846.1:c.4018_4019delCA NP_001394775.1:p.Gln1340Glufs frameshift NM_001407847.1:c.4018_4019delCA NP_001394776.1:p.Gln1340Glufs frameshift NM_001407848.1:c.4018_4019delCA NP_001394777.1:p.Gln1340Glufs frameshift NM_001407849.1:c.4018_4019delCA NP_001394778.1:p.Gln1340Glufs frameshift NM_001407850.1:c.4021_4022delCA NP_001394779.1:p.Gln1341Glufs frameshift NM_001407851.1:c.4021_4022delCA NP_001394780.1:p.Gln1341Glufs frameshift NM_001407852.1:c.4021_4022delCA NP_001394781.1:p.Gln1341Glufs frameshift NM_001407853.1:c.3949_3950delCA NP_001394782.1:p.Gln1317Glufs frameshift NM_001407854.1:c.4162_4163delCA NP_001394783.1:p.Gln1388Glufs frameshift NM_001407858.1:c.4162_4163delCA NP_001394787.1:p.Gln1388Glufs frameshift NM_001407859.1:c.4162_4163delCA NP_001394788.1:p.Gln1388Glufs frameshift NM_001407860.1:c.4159_4160delCA NP_001394789.1:p.Gln1387Glufs frameshift NM_001407861.1:c.4159_4160delCA NP_001394790.1:p.Gln1387Glufs frameshift NM_001407862.1:c.3961_3962delCA NP_001394791.1:p.Gln1321Glufs frameshift NM_001407863.1:c.4039_4040delCA NP_001394792.1:p.Gln1347Glufs frameshift NM_001407874.1:c.3958_3959delCA NP_001394803.1:p.Gln1320Glufs frameshift NM_001407875.1:c.3958_3959delCA NP_001394804.1:p.Gln1320Glufs frameshift NM_001407879.1:c.3952_3953delCA NP_001394808.1:p.Gln1318Glufs frameshift NM_001407881.1:c.3952_3953delCA NP_001394810.1:p.Gln1318Glufs frameshift NM_001407882.1:c.3952_3953delCA NP_001394811.1:p.Gln1318Glufs frameshift NM_001407884.1:c.3952_3953delCA NP_001394813.1:p.Gln1318Glufs frameshift NM_001407885.1:c.3952_3953delCA NP_001394814.1:p.Gln1318Glufs frameshift NM_001407886.1:c.3952_3953delCA NP_001394815.1:p.Gln1318Glufs frameshift NM_001407887.1:c.3952_3953delCA NP_001394816.1:p.Gln1318Glufs frameshift NM_001407889.1:c.3952_3953delCA NP_001394818.1:p.Gln1318Glufs frameshift NM_001407894.1:c.3949_3950delCA NP_001394823.1:p.Gln1317Glufs frameshift NM_001407895.1:c.3949_3950delCA NP_001394824.1:p.Gln1317Glufs frameshift NM_001407896.1:c.3949_3950delCA NP_001394825.1:p.Gln1317Glufs frameshift NM_001407897.1:c.3949_3950delCA NP_001394826.1:p.Gln1317Glufs frameshift NM_001407898.1:c.3949_3950delCA NP_001394827.1:p.Gln1317Glufs frameshift NM_001407899.1:c.3949_3950delCA NP_001394828.1:p.Gln1317Glufs frameshift NM_001407900.1:c.3952_3953delCA NP_001394829.1:p.Gln1318Glufs frameshift NM_001407902.1:c.3952_3953delCA NP_001394831.1:p.Gln1318Glufs frameshift NM_001407904.1:c.3952_3953delCA NP_001394833.1:p.Gln1318Glufs frameshift NM_001407906.1:c.3952_3953delCA NP_001394835.1:p.Gln1318Glufs frameshift NM_001407907.1:c.3952_3953delCA NP_001394836.1:p.Gln1318Glufs frameshift NM_001407908.1:c.3952_3953delCA NP_001394837.1:p.Gln1318Glufs frameshift NM_001407909.1:c.3952_3953delCA NP_001394838.1:p.Gln1318Glufs frameshift NM_001407910.1:c.3952_3953delCA NP_001394839.1:p.Gln1318Glufs frameshift NM_001407915.1:c.3949_3950delCA NP_001394844.1:p.Gln1317Glufs frameshift NM_001407916.1:c.3949_3950delCA NP_001394845.1:p.Gln1317Glufs frameshift NM_001407917.1:c.3949_3950delCA NP_001394846.1:p.Gln1317Glufs frameshift NM_001407918.1:c.3949_3950delCA NP_001394847.1:p.Gln1317Glufs frameshift NM_001407919.1:c.4039_4040delCA NP_001394848.1:p.Gln1347Glufs frameshift NM_001407920.1:c.3898_3899delCA NP_001394849.1:p.Gln1300Glufs frameshift NM_001407921.1:c.3898_3899delCA NP_001394850.1:p.Gln1300Glufs frameshift NM_001407922.1:c.3898_3899delCA NP_001394851.1:p.Gln1300Glufs frameshift NM_001407923.1:c.3898_3899delCA NP_001394852.1:p.Gln1300Glufs frameshift NM_001407924.1:c.3898_3899delCA NP_001394853.1:p.Gln1300Glufs frameshift NM_001407925.1:c.3898_3899delCA NP_001394854.1:p.Gln1300Glufs frameshift NM_001407926.1:c.3898_3899delCA NP_001394855.1:p.Gln1300Glufs frameshift NM_001407927.1:c.3898_3899delCA NP_001394856.1:p.Gln1300Glufs frameshift NM_001407928.1:c.3898_3899delCA NP_001394857.1:p.Gln1300Glufs frameshift NM_001407929.1:c.3898_3899delCA NP_001394858.1:p.Gln1300Glufs frameshift NM_001407930.1:c.3895_3896delCA NP_001394859.1:p.Gln1299Glufs frameshift NM_001407931.1:c.3895_3896delCA NP_001394860.1:p.Gln1299Glufs frameshift NM_001407932.1:c.3895_3896delCA NP_001394861.1:p.Gln1299Glufs frameshift NM_001407933.1:c.3898_3899delCA NP_001394862.1:p.Gln1300Glufs frameshift NM_001407934.1:c.3895_3896delCA NP_001394863.1:p.Gln1299Glufs frameshift NM_001407935.1:c.3898_3899delCA NP_001394864.1:p.Gln1300Glufs frameshift NM_001407936.1:c.3895_3896delCA NP_001394865.1:p.Gln1299Glufs frameshift NM_001407937.1:c.4039_4040delCA NP_001394866.1:p.Gln1347Glufs frameshift NM_001407938.1:c.4039_4040delCA NP_001394867.1:p.Gln1347Glufs frameshift NM_001407939.1:c.4039_4040delCA NP_001394868.1:p.Gln1347Glufs frameshift NM_001407940.1:c.4036_4037delCA NP_001394869.1:p.Gln1346Glufs frameshift NM_001407941.1:c.4036_4037delCA NP_001394870.1:p.Gln1346Glufs frameshift NM_001407942.1:c.4021_4022delCA NP_001394871.1:p.Gln1341Glufs frameshift NM_001407943.1:c.4018_4019delCA NP_001394872.1:p.Gln1340Glufs frameshift NM_001407944.1:c.4021_4022delCA NP_001394873.1:p.Gln1341Glufs frameshift NM_001407945.1:c.4021_4022delCA NP_001394874.1:p.Gln1341Glufs frameshift NM_001407946.1:c.3829_3830delCA NP_001394875.1:p.Gln1277Glufs frameshift NM_001407947.1:c.3829_3830delCA NP_001394876.1:p.Gln1277Glufs frameshift NM_001407948.1:c.3829_3830delCA NP_001394877.1:p.Gln1277Glufs frameshift NM_001407949.1:c.3829_3830delCA NP_001394878.1:p.Gln1277Glufs frameshift NM_001407950.1:c.3829_3830delCA NP_001394879.1:p.Gln1277Glufs frameshift NM_001407951.1:c.3829_3830delCA NP_001394880.1:p.Gln1277Glufs frameshift NM_001407952.1:c.3829_3830delCA NP_001394881.1:p.Gln1277Glufs frameshift NM_001407953.1:c.3829_3830delCA NP_001394882.1:p.Gln1277Glufs frameshift NM_001407954.1:c.3826_3827delCA NP_001394883.1:p.Gln1276Glufs frameshift NM_001407955.1:c.3826_3827delCA NP_001394884.1:p.Gln1276Glufs frameshift NM_001407956.1:c.3826_3827delCA NP_001394885.1:p.Gln1276Glufs frameshift NM_001407957.1:c.3829_3830delCA NP_001394886.1:p.Gln1277Glufs frameshift NM_001407958.1:c.3826_3827delCA NP_001394887.1:p.Gln1276Glufs frameshift NM_001407959.1:c.3781_3782delCA NP_001394888.1:p.Gln1261Glufs frameshift NM_001407960.1:c.3781_3782delCA NP_001394889.1:p.Gln1261Glufs frameshift NM_001407962.1:c.3778_3779delCA NP_001394891.1:p.Gln1260Glufs frameshift NM_001407963.1:c.3781_3782delCA NP_001394892.1:p.Gln1261Glufs frameshift NM_001407964.1:c.4018_4019delCA NP_001394893.1:p.Gln1340Glufs frameshift NM_001407965.1:c.3658_3659delCA NP_001394894.1:p.Gln1220Glufs frameshift NM_001407966.1:c.3274_3275delCA NP_001394895.1:p.Gln1092Glufs frameshift NM_001407967.1:c.3274_3275delCA NP_001394896.1:p.Gln1092Glufs frameshift NM_001407968.1:c.1558_1559delCA NP_001394897.1:p.Gln520Glufs frameshift NM_001407969.1:c.1558_1559delCA NP_001394898.1:p.Gln520Glufs frameshift NM_001407970.1:c.853_854delCA NP_001394899.1:p.Gln285Glufs frameshift NM_001407971.1:c.853_854delCA NP_001394900.1:p.Gln285Glufs frameshift NM_001407972.1:c.850_851delCA NP_001394901.1:p.Gln284Glufs frameshift NM_001407973.1:c.853_854delCA NP_001394902.1:p.Gln285Glufs frameshift NM_001407974.1:c.853_854delCA NP_001394903.1:p.Gln285Glufs frameshift NM_001407975.1:c.853_854delCA NP_001394904.1:p.Gln285Glufs frameshift NM_001407976.1:c.853_854delCA NP_001394905.1:p.Gln285Glufs frameshift NM_001407977.1:c.853_854delCA NP_001394906.1:p.Gln285Glufs frameshift NM_001407978.1:c.853_854delCA NP_001394907.1:p.Gln285Glufs frameshift NM_001407979.1:c.853_854delCA NP_001394908.1:p.Gln285Glufs frameshift NM_001407980.1:c.853_854delCA NP_001394909.1:p.Gln285Glufs frameshift NM_001407981.1:c.853_854delCA NP_001394910.1:p.Gln285Glufs frameshift NM_001407982.1:c.853_854delCA NP_001394911.1:p.Gln285Glufs frameshift NM_001407983.1:c.853_854delCA NP_001394912.1:p.Gln285Glufs frameshift NM_001407984.1:c.850_851delCA NP_001394913.1:p.Gln284Glufs frameshift NM_001407985.1:c.850_851delCA NP_001394914.1:p.Gln284Glufs frameshift NM_001407986.1:c.850_851delCA NP_001394915.1:p.Gln284Glufs frameshift NM_001407990.1:c.853_854delCA NP_001394919.1:p.Gln285Glufs frameshift NM_001407991.1:c.850_851delCA NP_001394920.1:p.Gln284Glufs frameshift NM_001407992.1:c.850_851delCA NP_001394921.1:p.Gln284Glufs frameshift NM_001407993.1:c.853_854delCA NP_001394922.1:p.Gln285Glufs frameshift NM_001408392.1:c.850_851delCA NP_001395321.1:p.Gln284Glufs frameshift NM_001408396.1:c.850_851delCA NP_001395325.1:p.Gln284Glufs frameshift NM_001408397.1:c.850_851delCA NP_001395326.1:p.Gln284Glufs frameshift NM_001408398.1:c.850_851delCA NP_001395327.1:p.Gln284Glufs frameshift NM_001408399.1:c.850_851delCA NP_001395328.1:p.Gln284Glufs frameshift NM_001408400.1:c.850_851delCA NP_001395329.1:p.Gln284Glufs frameshift NM_001408401.1:c.850_851delCA NP_001395330.1:p.Gln284Glufs frameshift NM_001408402.1:c.850_851delCA NP_001395331.1:p.Gln284Glufs frameshift NM_001408403.1:c.853_854delCA NP_001395332.1:p.Gln285Glufs frameshift NM_001408404.1:c.853_854delCA NP_001395333.1:p.Gln285Glufs frameshift NM_001408406.1:c.847_848delCA NP_001395335.1:p.Gln283Glufs frameshift NM_001408407.1:c.850_851delCA NP_001395336.1:p.Gln284Glufs frameshift NM_001408408.1:c.844_845delCA NP_001395337.1:p.Gln282Glufs frameshift NM_001408409.1:c.775_776delCA NP_001395338.1:p.Gln259Glufs frameshift NM_001408410.1:c.712_713delCA NP_001395339.1:p.Gln238Glufs frameshift NM_001408411.1:c.775_776delCA NP_001395340.1:p.Gln259Glufs frameshift NM_001408412.1:c.775_776delCA NP_001395341.1:p.Gln259Glufs frameshift NM_001408413.1:c.772_773delCA NP_001395342.1:p.Gln258Glufs frameshift NM_001408414.1:c.775_776delCA NP_001395343.1:p.Gln259Glufs frameshift NM_001408415.1:c.775_776delCA NP_001395344.1:p.Gln259Glufs frameshift NM_001408416.1:c.772_773delCA NP_001395345.1:p.Gln258Glufs frameshift NM_001408418.1:c.736_737delCA NP_001395347.1:p.Gln246Glufs frameshift NM_001408419.1:c.736_737delCA NP_001395348.1:p.Gln246Glufs frameshift NM_001408420.1:c.736_737delCA NP_001395349.1:p.Gln246Glufs frameshift NM_001408421.1:c.733_734delCA NP_001395350.1:p.Gln245Glufs frameshift NM_001408422.1:c.736_737delCA NP_001395351.1:p.Gln246Glufs frameshift NM_001408423.1:c.736_737delCA NP_001395352.1:p.Gln246Glufs frameshift NM_001408424.1:c.733_734delCA NP_001395353.1:p.Gln245Glufs frameshift NM_001408425.1:c.730_731delCA NP_001395354.1:p.Gln244Glufs frameshift NM_001408426.1:c.730_731delCA NP_001395355.1:p.Gln244Glufs frameshift NM_001408427.1:c.730_731delCA NP_001395356.1:p.Gln244Glufs frameshift NM_001408428.1:c.730_731delCA NP_001395357.1:p.Gln244Glufs frameshift NM_001408429.1:c.730_731delCA NP_001395358.1:p.Gln244Glufs frameshift NM_001408430.1:c.730_731delCA NP_001395359.1:p.Gln244Glufs frameshift NM_001408431.1:c.733_734delCA NP_001395360.1:p.Gln245Glufs frameshift NM_001408432.1:c.727_728delCA NP_001395361.1:p.Gln243Glufs frameshift NM_001408433.1:c.727_728delCA NP_001395362.1:p.Gln243Glufs frameshift NM_001408434.1:c.727_728delCA NP_001395363.1:p.Gln243Glufs frameshift NM_001408435.1:c.727_728delCA NP_001395364.1:p.Gln243Glufs frameshift NM_001408436.1:c.730_731delCA NP_001395365.1:p.Gln244Glufs frameshift NM_001408437.1:c.730_731delCA NP_001395366.1:p.Gln244Glufs frameshift NM_001408438.1:c.730_731delCA NP_001395367.1:p.Gln244Glufs frameshift NM_001408439.1:c.730_731delCA NP_001395368.1:p.Gln244Glufs frameshift NM_001408440.1:c.730_731delCA NP_001395369.1:p.Gln244Glufs frameshift NM_001408441.1:c.730_731delCA NP_001395370.1:p.Gln244Glufs frameshift NM_001408442.1:c.730_731delCA NP_001395371.1:p.Gln244Glufs frameshift NM_001408443.1:c.730_731delCA NP_001395372.1:p.Gln244Glufs frameshift NM_001408444.1:c.730_731delCA NP_001395373.1:p.Gln244Glufs frameshift NM_001408445.1:c.727_728delCA NP_001395374.1:p.Gln243Glufs frameshift NM_001408446.1:c.727_728delCA NP_001395375.1:p.Gln243Glufs frameshift NM_001408447.1:c.727_728delCA NP_001395376.1:p.Gln243Glufs frameshift NM_001408448.1:c.727_728delCA NP_001395377.1:p.Gln243Glufs frameshift NM_001408450.1:c.727_728delCA NP_001395379.1:p.Gln243Glufs frameshift NM_001408451.1:c.718_719delCA NP_001395380.1:p.Gln240Glufs frameshift NM_001408452.1:c.712_713delCA NP_001395381.1:p.Gln238Glufs frameshift NM_001408453.1:c.712_713delCA NP_001395382.1:p.Gln238Glufs frameshift NM_001408454.1:c.712_713delCA NP_001395383.1:p.Gln238Glufs frameshift NM_001408455.1:c.712_713delCA NP_001395384.1:p.Gln238Glufs frameshift NM_001408456.1:c.712_713delCA NP_001395385.1:p.Gln238Glufs frameshift NM_001408457.1:c.712_713delCA NP_001395386.1:p.Gln238Glufs frameshift NM_001408458.1:c.712_713delCA NP_001395387.1:p.Gln238Glufs frameshift NM_001408459.1:c.712_713delCA NP_001395388.1:p.Gln238Glufs frameshift NM_001408460.1:c.712_713delCA NP_001395389.1:p.Gln238Glufs frameshift NM_001408461.1:c.712_713delCA NP_001395390.1:p.Gln238Glufs frameshift NM_001408462.1:c.709_710delCA NP_001395391.1:p.Gln237Glufs frameshift NM_001408463.1:c.709_710delCA NP_001395392.1:p.Gln237Glufs frameshift NM_001408464.1:c.709_710delCA NP_001395393.1:p.Gln237Glufs frameshift NM_001408465.1:c.709_710delCA NP_001395394.1:p.Gln237Glufs frameshift NM_001408466.1:c.712_713delCA NP_001395395.1:p.Gln238Glufs frameshift NM_001408467.1:c.712_713delCA NP_001395396.1:p.Gln238Glufs frameshift NM_001408468.1:c.709_710delCA NP_001395397.1:p.Gln237Glufs frameshift NM_001408469.1:c.712_713delCA NP_001395398.1:p.Gln238Glufs frameshift NM_001408470.1:c.709_710delCA NP_001395399.1:p.Gln237Glufs frameshift NM_001408472.1:c.853_854delCA NP_001395401.1:p.Gln285Glufs frameshift NM_001408473.1:c.850_851delCA NP_001395402.1:p.Gln284Glufs frameshift NM_001408474.1:c.652_653delCA NP_001395403.1:p.Gln218Glufs frameshift NM_001408475.1:c.649_650delCA NP_001395404.1:p.Gln217Glufs frameshift NM_001408476.1:c.652_653delCA NP_001395405.1:p.Gln218Glufs frameshift NM_001408478.1:c.643_644delCA NP_001395407.1:p.Gln215Glufs frameshift NM_001408479.1:c.643_644delCA NP_001395408.1:p.Gln215Glufs frameshift NM_001408480.1:c.643_644delCA NP_001395409.1:p.Gln215Glufs frameshift NM_001408481.1:c.643_644delCA NP_001395410.1:p.Gln215Glufs frameshift NM_001408482.1:c.643_644delCA NP_001395411.1:p.Gln215Glufs frameshift NM_001408483.1:c.643_644delCA NP_001395412.1:p.Gln215Glufs frameshift NM_001408484.1:c.643_644delCA NP_001395413.1:p.Gln215Glufs frameshift NM_001408485.1:c.643_644delCA NP_001395414.1:p.Gln215Glufs frameshift NM_001408489.1:c.643_644delCA NP_001395418.1:p.Gln215Glufs frameshift NM_001408490.1:c.640_641delCA NP_001395419.1:p.Gln214Glufs frameshift NM_001408491.1:c.640_641delCA NP_001395420.1:p.Gln214Glufs frameshift NM_001408492.1:c.643_644delCA NP_001395421.1:p.Gln215Glufs frameshift NM_001408493.1:c.640_641delCA NP_001395422.1:p.Gln214Glufs frameshift NM_001408494.1:c.613_614delCA NP_001395423.1:p.Gln205Glufs frameshift NM_001408495.1:c.610_611delCA NP_001395424.1:p.Gln204Glufs frameshift NM_001408496.1:c.589_590delCA NP_001395425.1:p.Gln197Glufs frameshift NM_001408497.1:c.589_590delCA NP_001395426.1:p.Gln197Glufs frameshift NM_001408498.1:c.589_590delCA NP_001395427.1:p.Gln197Glufs frameshift NM_001408499.1:c.589_590delCA NP_001395428.1:p.Gln197Glufs frameshift NM_001408500.1:c.589_590delCA NP_001395429.1:p.Gln197Glufs frameshift NM_001408501.1:c.589_590delCA NP_001395430.1:p.Gln197Glufs frameshift NM_001408502.1:c.520_521delCA NP_001395431.1:p.Gln174Glufs frameshift NM_001408503.1:c.586_587delCA NP_001395432.1:p.Gln196Glufs frameshift NM_001408504.1:c.586_587delCA NP_001395433.1:p.Gln196Glufs frameshift NM_001408505.1:c.586_587delCA NP_001395434.1:p.Gln196Glufs frameshift NM_001408506.1:c.526_527delCA NP_001395435.1:p.Gln176Glufs frameshift NM_001408507.1:c.526_527delCA NP_001395436.1:p.Gln176Glufs frameshift NM_001408508.1:c.517_518delCA NP_001395437.1:p.Gln173Glufs frameshift NM_001408509.1:c.517_518delCA NP_001395438.1:p.Gln173Glufs frameshift NM_001408510.1:c.472_473delCA NP_001395439.1:p.Gln158Glufs frameshift NM_001408511.1:c.469_470delCA NP_001395440.1:p.Gln157Glufs frameshift NM_001408512.1:c.349_350delCA NP_001395441.1:p.Gln117Glufs frameshift NM_001408513.1:c.643_644delCA NP_001395442.1:p.Gln215Glufs frameshift NM_001408514.1:c.643_644delCA NP_001395443.1:p.Gln215Glufs frameshift NM_007294.3:c.4162_4163delCA NP_009225.1:p.Gln1388Glufs frameshift NM_007297.4:c.4021_4022del NP_009228.2:p.Gln1341fs frameshift NM_007298.4:c.853_854delCA NP_009229.2:p.Gln285Glufs frameshift NM_007299.4:c.853_854del NP_009230.2:p.Gln285fs frameshift NM_007300.4:c.4162_4163del NP_009231.2:p.Gln1388fs frameshift NM_007304.2:c.853_854delCA NP_009235.2:p.Gln285Glufs frameshift NR_027676.2:n.4339_4340del non-coding transcript variant NC_000017.11:g.43090966_43090967del NC_000017.10:g.41242983_41242984del NG_005905.2:g.127017_127018del LRG_292:g.127017_127018del LRG_292t1:c.4162_4163del LRG_292p1:p.Gln1388fs - Protein change
- Q1388fs, Q285fs, Q1341fs
- Other names
- 4281delCA-ter1389
- Canonical SPDI
- NC_000017.11:43090965:TG:
-
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.
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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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12752 | 14513 |
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
|
Oct 18, 2016 | RCV000257661.13 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Pathogenic
(Oct 18, 2016)
|
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: SCV000323734.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325870.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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 rs886040210 ...
HelpRecord last updated Apr 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.