ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.500_501del (p.Thr167fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.500_501del (p.Thr167fs)
Variation ID: 266508 Accession: VCV000266508.6
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43099821-43099822 (GRCh38) [ NCBI UCSC ] 17: 41251838-41251839 (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
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.500_501del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr167fs frameshift NM_001407571.1:c.286_287delAC NP_001394500.1:p.Thr96Lysfs frameshift NM_001407581.1:c.499_500delAC NP_001394510.1:p.Thr167Lysfs frameshift NM_001407582.1:c.499_500delAC NP_001394511.1:p.Thr167Lysfs frameshift NM_001407583.1:c.499_500delAC NP_001394512.1:p.Thr167Lysfs frameshift NM_001407585.1:c.499_500delAC NP_001394514.1:p.Thr167Lysfs frameshift NM_001407587.1:c.496_497delAC NP_001394516.1:p.Thr166Lysfs frameshift NM_001407590.1:c.496_497delAC NP_001394519.1:p.Thr166Lysfs frameshift NM_001407591.1:c.496_497delAC NP_001394520.1:p.Thr166Lysfs frameshift NM_001407593.1:c.499_500delAC NP_001394522.1:p.Thr167Lysfs frameshift NM_001407594.1:c.499_500delAC NP_001394523.1:p.Thr167Lysfs frameshift NM_001407596.1:c.499_500delAC NP_001394525.1:p.Thr167Lysfs frameshift NM_001407597.1:c.499_500delAC NP_001394526.1:p.Thr167Lysfs frameshift NM_001407598.1:c.499_500delAC NP_001394527.1:p.Thr167Lysfs frameshift NM_001407602.1:c.499_500delAC NP_001394531.1:p.Thr167Lysfs frameshift NM_001407603.1:c.499_500delAC NP_001394532.1:p.Thr167Lysfs frameshift NM_001407605.1:c.499_500delAC NP_001394534.1:p.Thr167Lysfs frameshift NM_001407610.1:c.496_497delAC NP_001394539.1:p.Thr166Lysfs frameshift NM_001407611.1:c.496_497delAC NP_001394540.1:p.Thr166Lysfs frameshift NM_001407612.1:c.496_497delAC NP_001394541.1:p.Thr166Lysfs frameshift NM_001407613.1:c.496_497delAC NP_001394542.1:p.Thr166Lysfs frameshift NM_001407614.1:c.496_497delAC NP_001394543.1:p.Thr166Lysfs frameshift NM_001407615.1:c.496_497delAC NP_001394544.1:p.Thr166Lysfs frameshift NM_001407616.1:c.499_500delAC NP_001394545.1:p.Thr167Lysfs frameshift NM_001407617.1:c.499_500delAC NP_001394546.1:p.Thr167Lysfs frameshift NM_001407618.1:c.499_500delAC NP_001394547.1:p.Thr167Lysfs frameshift NM_001407619.1:c.499_500delAC NP_001394548.1:p.Thr167Lysfs frameshift NM_001407620.1:c.499_500delAC NP_001394549.1:p.Thr167Lysfs frameshift NM_001407621.1:c.499_500delAC NP_001394550.1:p.Thr167Lysfs frameshift NM_001407622.1:c.499_500delAC NP_001394551.1:p.Thr167Lysfs frameshift NM_001407623.1:c.499_500delAC NP_001394552.1:p.Thr167Lysfs frameshift NM_001407624.1:c.499_500delAC NP_001394553.1:p.Thr167Lysfs frameshift NM_001407625.1:c.499_500delAC NP_001394554.1:p.Thr167Lysfs frameshift NM_001407626.1:c.499_500delAC NP_001394555.1:p.Thr167Lysfs frameshift NM_001407627.1:c.496_497delAC NP_001394556.1:p.Thr166Lysfs frameshift NM_001407628.1:c.496_497delAC NP_001394557.1:p.Thr166Lysfs frameshift NM_001407629.1:c.496_497delAC NP_001394558.1:p.Thr166Lysfs frameshift NM_001407630.1:c.496_497delAC NP_001394559.1:p.Thr166Lysfs frameshift NM_001407631.1:c.496_497delAC NP_001394560.1:p.Thr166Lysfs frameshift NM_001407632.1:c.496_497delAC NP_001394561.1:p.Thr166Lysfs frameshift NM_001407633.1:c.496_497delAC NP_001394562.1:p.Thr166Lysfs frameshift NM_001407634.1:c.496_497delAC NP_001394563.1:p.Thr166Lysfs frameshift NM_001407635.1:c.496_497delAC NP_001394564.1:p.Thr166Lysfs frameshift NM_001407636.1:c.496_497delAC NP_001394565.1:p.Thr166Lysfs frameshift NM_001407637.1:c.496_497delAC NP_001394566.1:p.Thr166Lysfs frameshift NM_001407638.1:c.496_497delAC NP_001394567.1:p.Thr166Lysfs frameshift NM_001407639.1:c.499_500delAC NP_001394568.1:p.Thr167Lysfs frameshift NM_001407640.1:c.499_500delAC NP_001394569.1:p.Thr167Lysfs frameshift NM_001407641.1:c.499_500delAC NP_001394570.1:p.Thr167Lysfs frameshift NM_001407642.1:c.499_500delAC NP_001394571.1:p.Thr167Lysfs frameshift NM_001407644.1:c.496_497delAC NP_001394573.1:p.Thr166Lysfs frameshift NM_001407645.1:c.496_497delAC NP_001394574.1:p.Thr166Lysfs frameshift NM_001407646.1:c.490_491delAC NP_001394575.1:p.Thr164Lysfs frameshift NM_001407647.1:c.490_491delAC NP_001394576.1:p.Thr164Lysfs frameshift NM_001407648.1:c.499_500delAC NP_001394577.1:p.Thr167Lysfs frameshift NM_001407649.1:c.496_497delAC NP_001394578.1:p.Thr166Lysfs frameshift NM_001407652.1:c.499_500delAC NP_001394581.1:p.Thr167Lysfs frameshift NM_001407653.1:c.421_422delAC NP_001394582.1:p.Thr141Lysfs frameshift NM_001407654.1:c.421_422delAC NP_001394583.1:p.Thr141Lysfs frameshift NM_001407655.1:c.421_422delAC NP_001394584.1:p.Thr141Lysfs frameshift NM_001407656.1:c.421_422delAC NP_001394585.1:p.Thr141Lysfs frameshift NM_001407657.1:c.421_422delAC NP_001394586.1:p.Thr141Lysfs frameshift NM_001407658.1:c.421_422delAC NP_001394587.1:p.Thr141Lysfs frameshift NM_001407659.1:c.418_419delAC NP_001394588.1:p.Thr140Lysfs frameshift NM_001407660.1:c.418_419delAC NP_001394589.1:p.Thr140Lysfs frameshift NM_001407661.1:c.418_419delAC NP_001394590.1:p.Thr140Lysfs frameshift NM_001407662.1:c.418_419delAC NP_001394591.1:p.Thr140Lysfs frameshift NM_001407663.1:c.421_422delAC NP_001394592.1:p.Thr141Lysfs frameshift NM_001407664.1:c.499_500delAC NP_001394593.1:p.Thr167Lysfs frameshift NM_001407665.1:c.499_500delAC NP_001394594.1:p.Thr167Lysfs frameshift NM_001407666.1:c.499_500delAC NP_001394595.1:p.Thr167Lysfs frameshift NM_001407667.1:c.499_500delAC NP_001394596.1:p.Thr167Lysfs frameshift NM_001407668.1:c.499_500delAC NP_001394597.1:p.Thr167Lysfs frameshift NM_001407669.1:c.499_500delAC NP_001394598.1:p.Thr167Lysfs frameshift NM_001407670.1:c.496_497delAC NP_001394599.1:p.Thr166Lysfs frameshift NM_001407671.1:c.496_497delAC NP_001394600.1:p.Thr166Lysfs frameshift NM_001407672.1:c.496_497delAC NP_001394601.1:p.Thr166Lysfs frameshift NM_001407673.1:c.496_497delAC NP_001394602.1:p.Thr166Lysfs frameshift NM_001407674.1:c.499_500delAC NP_001394603.1:p.Thr167Lysfs frameshift NM_001407675.1:c.499_500delAC NP_001394604.1:p.Thr167Lysfs frameshift NM_001407676.1:c.499_500delAC NP_001394605.1:p.Thr167Lysfs frameshift NM_001407677.1:c.499_500delAC NP_001394606.1:p.Thr167Lysfs frameshift NM_001407678.1:c.499_500delAC NP_001394607.1:p.Thr167Lysfs frameshift NM_001407679.1:c.499_500delAC NP_001394608.1:p.Thr167Lysfs frameshift NM_001407680.1:c.499_500delAC NP_001394609.1:p.Thr167Lysfs frameshift NM_001407681.1:c.499_500delAC NP_001394610.1:p.Thr167Lysfs frameshift NM_001407682.1:c.499_500delAC NP_001394611.1:p.Thr167Lysfs frameshift NM_001407683.1:c.499_500delAC NP_001394612.1:p.Thr167Lysfs frameshift NM_001407684.1:c.499_500delAC NP_001394613.1:p.Thr167Lysfs frameshift NM_001407685.1:c.496_497delAC NP_001394614.1:p.Thr166Lysfs frameshift NM_001407686.1:c.496_497delAC NP_001394615.1:p.Thr166Lysfs frameshift NM_001407687.1:c.496_497delAC NP_001394616.1:p.Thr166Lysfs frameshift NM_001407688.1:c.496_497delAC NP_001394617.1:p.Thr166Lysfs frameshift NM_001407689.1:c.496_497delAC NP_001394618.1:p.Thr166Lysfs frameshift NM_001407690.1:c.496_497delAC NP_001394619.1:p.Thr166Lysfs frameshift NM_001407691.1:c.496_497delAC NP_001394620.1:p.Thr166Lysfs frameshift NM_001407692.1:c.358_359delAC NP_001394621.1:p.Thr120Lysfs frameshift NM_001407694.1:c.358_359delAC NP_001394623.1:p.Thr120Lysfs frameshift NM_001407695.1:c.358_359delAC NP_001394624.1:p.Thr120Lysfs frameshift NM_001407696.1:c.358_359delAC NP_001394625.1:p.Thr120Lysfs frameshift NM_001407697.1:c.358_359delAC NP_001394626.1:p.Thr120Lysfs frameshift NM_001407698.1:c.358_359delAC NP_001394627.1:p.Thr120Lysfs frameshift NM_001407724.1:c.358_359delAC NP_001394653.1:p.Thr120Lysfs frameshift NM_001407725.1:c.358_359delAC NP_001394654.1:p.Thr120Lysfs frameshift NM_001407726.1:c.358_359delAC NP_001394655.1:p.Thr120Lysfs frameshift NM_001407727.1:c.358_359delAC NP_001394656.1:p.Thr120Lysfs frameshift NM_001407728.1:c.358_359delAC NP_001394657.1:p.Thr120Lysfs frameshift NM_001407729.1:c.358_359delAC NP_001394658.1:p.Thr120Lysfs frameshift NM_001407730.1:c.358_359delAC NP_001394659.1:p.Thr120Lysfs frameshift NM_001407731.1:c.358_359delAC NP_001394660.1:p.Thr120Lysfs frameshift NM_001407732.1:c.358_359delAC NP_001394661.1:p.Thr120Lysfs frameshift NM_001407733.1:c.358_359delAC NP_001394662.1:p.Thr120Lysfs frameshift NM_001407734.1:c.358_359delAC NP_001394663.1:p.Thr120Lysfs frameshift NM_001407735.1:c.358_359delAC NP_001394664.1:p.Thr120Lysfs frameshift NM_001407736.1:c.358_359delAC NP_001394665.1:p.Thr120Lysfs frameshift NM_001407737.1:c.358_359delAC NP_001394666.1:p.Thr120Lysfs frameshift NM_001407738.1:c.358_359delAC NP_001394667.1:p.Thr120Lysfs frameshift NM_001407739.1:c.358_359delAC NP_001394668.1:p.Thr120Lysfs frameshift NM_001407740.1:c.355_356delAC NP_001394669.1:p.Thr119Lysfs frameshift NM_001407741.1:c.355_356delAC NP_001394670.1:p.Thr119Lysfs frameshift NM_001407742.1:c.355_356delAC NP_001394671.1:p.Thr119Lysfs frameshift NM_001407743.1:c.355_356delAC NP_001394672.1:p.Thr119Lysfs frameshift NM_001407744.1:c.355_356delAC NP_001394673.1:p.Thr119Lysfs frameshift NM_001407745.1:c.355_356delAC NP_001394674.1:p.Thr119Lysfs frameshift NM_001407746.1:c.355_356delAC NP_001394675.1:p.Thr119Lysfs frameshift NM_001407747.1:c.355_356delAC NP_001394676.1:p.Thr119Lysfs frameshift NM_001407748.1:c.355_356delAC NP_001394677.1:p.Thr119Lysfs frameshift NM_001407749.1:c.355_356delAC NP_001394678.1:p.Thr119Lysfs frameshift NM_001407750.1:c.358_359delAC NP_001394679.1:p.Thr120Lysfs frameshift NM_001407751.1:c.358_359delAC NP_001394680.1:p.Thr120Lysfs frameshift NM_001407752.1:c.358_359delAC NP_001394681.1:p.Thr120Lysfs frameshift NM_001407838.1:c.355_356delAC NP_001394767.1:p.Thr119Lysfs frameshift NM_001407839.1:c.355_356delAC NP_001394768.1:p.Thr119Lysfs frameshift NM_001407841.1:c.355_356delAC NP_001394770.1:p.Thr119Lysfs frameshift NM_001407842.1:c.355_356delAC NP_001394771.1:p.Thr119Lysfs frameshift NM_001407843.1:c.355_356delAC NP_001394772.1:p.Thr119Lysfs frameshift NM_001407844.1:c.355_356delAC NP_001394773.1:p.Thr119Lysfs frameshift NM_001407845.1:c.355_356delAC NP_001394774.1:p.Thr119Lysfs frameshift NM_001407846.1:c.355_356delAC NP_001394775.1:p.Thr119Lysfs frameshift NM_001407847.1:c.355_356delAC NP_001394776.1:p.Thr119Lysfs frameshift NM_001407848.1:c.355_356delAC NP_001394777.1:p.Thr119Lysfs frameshift NM_001407849.1:c.355_356delAC NP_001394778.1:p.Thr119Lysfs frameshift NM_001407850.1:c.358_359delAC NP_001394779.1:p.Thr120Lysfs frameshift NM_001407851.1:c.358_359delAC NP_001394780.1:p.Thr120Lysfs frameshift NM_001407852.1:c.358_359delAC NP_001394781.1:p.Thr120Lysfs frameshift NM_001407853.1:c.286_287delAC NP_001394782.1:p.Thr96Lysfs frameshift NM_001407854.1:c.499_500delAC NP_001394783.1:p.Thr167Lysfs frameshift NM_001407858.1:c.499_500delAC NP_001394787.1:p.Thr167Lysfs frameshift NM_001407859.1:c.499_500delAC NP_001394788.1:p.Thr167Lysfs frameshift NM_001407860.1:c.496_497delAC NP_001394789.1:p.Thr166Lysfs frameshift NM_001407861.1:c.496_497delAC NP_001394790.1:p.Thr166Lysfs frameshift NM_001407862.1:c.421_422delAC NP_001394791.1:p.Thr141Lysfs frameshift NM_001407863.1:c.499_500delAC NP_001394792.1:p.Thr167Lysfs frameshift NM_001407874.1:c.418_419delAC NP_001394803.1:p.Thr140Lysfs frameshift NM_001407875.1:c.418_419delAC NP_001394804.1:p.Thr140Lysfs frameshift NM_001407879.1:c.289_290delAC NP_001394808.1:p.Thr97Lysfs frameshift NM_001407881.1:c.289_290delAC NP_001394810.1:p.Thr97Lysfs frameshift NM_001407882.1:c.289_290delAC NP_001394811.1:p.Thr97Lysfs frameshift NM_001407884.1:c.289_290delAC NP_001394813.1:p.Thr97Lysfs frameshift NM_001407885.1:c.289_290delAC NP_001394814.1:p.Thr97Lysfs frameshift NM_001407886.1:c.289_290delAC NP_001394815.1:p.Thr97Lysfs frameshift NM_001407887.1:c.289_290delAC NP_001394816.1:p.Thr97Lysfs frameshift NM_001407889.1:c.289_290delAC NP_001394818.1:p.Thr97Lysfs frameshift NM_001407894.1:c.286_287delAC NP_001394823.1:p.Thr96Lysfs frameshift NM_001407895.1:c.286_287delAC NP_001394824.1:p.Thr96Lysfs frameshift NM_001407896.1:c.286_287delAC NP_001394825.1:p.Thr96Lysfs frameshift NM_001407897.1:c.286_287delAC NP_001394826.1:p.Thr96Lysfs frameshift NM_001407898.1:c.286_287delAC NP_001394827.1:p.Thr96Lysfs frameshift NM_001407899.1:c.286_287delAC NP_001394828.1:p.Thr96Lysfs frameshift NM_001407900.1:c.289_290delAC NP_001394829.1:p.Thr97Lysfs frameshift NM_001407902.1:c.289_290delAC NP_001394831.1:p.Thr97Lysfs frameshift NM_001407904.1:c.289_290delAC NP_001394833.1:p.Thr97Lysfs frameshift NM_001407906.1:c.289_290delAC NP_001394835.1:p.Thr97Lysfs frameshift NM_001407907.1:c.289_290delAC NP_001394836.1:p.Thr97Lysfs frameshift NM_001407908.1:c.289_290delAC NP_001394837.1:p.Thr97Lysfs frameshift NM_001407909.1:c.289_290delAC NP_001394838.1:p.Thr97Lysfs frameshift NM_001407910.1:c.289_290delAC NP_001394839.1:p.Thr97Lysfs frameshift NM_001407915.1:c.286_287delAC NP_001394844.1:p.Thr96Lysfs frameshift NM_001407916.1:c.286_287delAC NP_001394845.1:p.Thr96Lysfs frameshift NM_001407917.1:c.286_287delAC NP_001394846.1:p.Thr96Lysfs frameshift NM_001407918.1:c.286_287delAC NP_001394847.1:p.Thr96Lysfs frameshift NM_001407919.1:c.499_500delAC NP_001394848.1:p.Thr167Lysfs frameshift NM_001407920.1:c.358_359delAC NP_001394849.1:p.Thr120Lysfs frameshift NM_001407921.1:c.358_359delAC NP_001394850.1:p.Thr120Lysfs frameshift NM_001407922.1:c.358_359delAC NP_001394851.1:p.Thr120Lysfs frameshift NM_001407923.1:c.358_359delAC NP_001394852.1:p.Thr120Lysfs frameshift NM_001407924.1:c.358_359delAC NP_001394853.1:p.Thr120Lysfs frameshift NM_001407925.1:c.358_359delAC NP_001394854.1:p.Thr120Lysfs frameshift NM_001407926.1:c.358_359delAC NP_001394855.1:p.Thr120Lysfs frameshift NM_001407927.1:c.358_359delAC NP_001394856.1:p.Thr120Lysfs frameshift NM_001407928.1:c.358_359delAC NP_001394857.1:p.Thr120Lysfs frameshift NM_001407929.1:c.358_359delAC NP_001394858.1:p.Thr120Lysfs frameshift NM_001407930.1:c.355_356delAC NP_001394859.1:p.Thr119Lysfs frameshift NM_001407931.1:c.355_356delAC NP_001394860.1:p.Thr119Lysfs frameshift NM_001407932.1:c.355_356delAC NP_001394861.1:p.Thr119Lysfs frameshift NM_001407933.1:c.358_359delAC NP_001394862.1:p.Thr120Lysfs frameshift NM_001407934.1:c.355_356delAC NP_001394863.1:p.Thr119Lysfs frameshift NM_001407935.1:c.358_359delAC NP_001394864.1:p.Thr120Lysfs frameshift NM_001407936.1:c.355_356delAC NP_001394865.1:p.Thr119Lysfs frameshift NM_001407937.1:c.499_500delAC NP_001394866.1:p.Thr167Lysfs frameshift NM_001407938.1:c.499_500delAC NP_001394867.1:p.Thr167Lysfs frameshift NM_001407939.1:c.499_500delAC NP_001394868.1:p.Thr167Lysfs frameshift NM_001407940.1:c.496_497delAC NP_001394869.1:p.Thr166Lysfs frameshift NM_001407941.1:c.496_497delAC NP_001394870.1:p.Thr166Lysfs frameshift NM_001407942.1:c.358_359delAC NP_001394871.1:p.Thr120Lysfs frameshift NM_001407943.1:c.355_356delAC NP_001394872.1:p.Thr119Lysfs frameshift NM_001407944.1:c.358_359delAC NP_001394873.1:p.Thr120Lysfs frameshift NM_001407945.1:c.358_359delAC NP_001394874.1:p.Thr120Lysfs frameshift NM_001407946.1:c.289_290delAC NP_001394875.1:p.Thr97Lysfs frameshift NM_001407947.1:c.289_290delAC NP_001394876.1:p.Thr97Lysfs frameshift NM_001407948.1:c.289_290delAC NP_001394877.1:p.Thr97Lysfs frameshift NM_001407949.1:c.289_290delAC NP_001394878.1:p.Thr97Lysfs frameshift NM_001407950.1:c.289_290delAC NP_001394879.1:p.Thr97Lysfs frameshift NM_001407951.1:c.289_290delAC NP_001394880.1:p.Thr97Lysfs frameshift NM_001407952.1:c.289_290delAC NP_001394881.1:p.Thr97Lysfs frameshift NM_001407953.1:c.289_290delAC NP_001394882.1:p.Thr97Lysfs frameshift NM_001407954.1:c.286_287delAC NP_001394883.1:p.Thr96Lysfs frameshift NM_001407955.1:c.286_287delAC NP_001394884.1:p.Thr96Lysfs frameshift NM_001407956.1:c.286_287delAC NP_001394885.1:p.Thr96Lysfs frameshift NM_001407957.1:c.289_290delAC NP_001394886.1:p.Thr97Lysfs frameshift NM_001407958.1:c.286_287delAC NP_001394887.1:p.Thr96Lysfs frameshift NM_001407959.1:c.118_119delAC NP_001394888.1:p.Thr40Lysfs frameshift NM_001407960.1:c.118_119delAC NP_001394889.1:p.Thr40Lysfs frameshift NM_001407962.1:c.115_116delAC NP_001394891.1:p.Thr39Lysfs frameshift NM_001407963.1:c.118_119delAC NP_001394892.1:p.Thr40Lysfs frameshift NM_001407964.1:c.355_356delAC NP_001394893.1:p.Thr119Lysfs frameshift NM_001407965.1:c.118_119delAC NP_001394894.1:p.Thr40Lysfs frameshift NM_001407968.1:c.499_500delAC NP_001394897.1:p.Thr167Lysfs frameshift NM_001407969.1:c.499_500delAC NP_001394898.1:p.Thr167Lysfs frameshift NM_001407970.1:c.499_500delAC NP_001394899.1:p.Thr167Lysfs frameshift NM_001407971.1:c.499_500delAC NP_001394900.1:p.Thr167Lysfs frameshift NM_001407972.1:c.496_497delAC NP_001394901.1:p.Thr166Lysfs frameshift NM_001407973.1:c.499_500delAC NP_001394902.1:p.Thr167Lysfs frameshift NM_001407974.1:c.499_500delAC NP_001394903.1:p.Thr167Lysfs frameshift NM_001407975.1:c.499_500delAC NP_001394904.1:p.Thr167Lysfs frameshift NM_001407976.1:c.499_500delAC NP_001394905.1:p.Thr167Lysfs frameshift NM_001407977.1:c.499_500delAC NP_001394906.1:p.Thr167Lysfs frameshift NM_001407978.1:c.499_500delAC NP_001394907.1:p.Thr167Lysfs frameshift NM_001407979.1:c.499_500delAC NP_001394908.1:p.Thr167Lysfs frameshift NM_001407980.1:c.499_500delAC NP_001394909.1:p.Thr167Lysfs frameshift NM_001407981.1:c.499_500delAC NP_001394910.1:p.Thr167Lysfs frameshift NM_001407982.1:c.499_500delAC NP_001394911.1:p.Thr167Lysfs frameshift NM_001407983.1:c.499_500delAC NP_001394912.1:p.Thr167Lysfs frameshift NM_001407984.1:c.496_497delAC NP_001394913.1:p.Thr166Lysfs frameshift NM_001407985.1:c.496_497delAC NP_001394914.1:p.Thr166Lysfs frameshift NM_001407986.1:c.496_497delAC NP_001394915.1:p.Thr166Lysfs frameshift NM_001407990.1:c.499_500delAC NP_001394919.1:p.Thr167Lysfs frameshift NM_001407991.1:c.496_497delAC NP_001394920.1:p.Thr166Lysfs frameshift NM_001407992.1:c.496_497delAC NP_001394921.1:p.Thr166Lysfs frameshift NM_001407993.1:c.499_500delAC NP_001394922.1:p.Thr167Lysfs frameshift NM_001408392.1:c.496_497delAC NP_001395321.1:p.Thr166Lysfs frameshift NM_001408396.1:c.496_497delAC NP_001395325.1:p.Thr166Lysfs frameshift NM_001408397.1:c.496_497delAC NP_001395326.1:p.Thr166Lysfs frameshift NM_001408398.1:c.496_497delAC NP_001395327.1:p.Thr166Lysfs frameshift NM_001408399.1:c.496_497delAC NP_001395328.1:p.Thr166Lysfs frameshift NM_001408400.1:c.496_497delAC NP_001395329.1:p.Thr166Lysfs frameshift NM_001408401.1:c.496_497delAC NP_001395330.1:p.Thr166Lysfs frameshift NM_001408402.1:c.496_497delAC NP_001395331.1:p.Thr166Lysfs frameshift NM_001408403.1:c.499_500delAC NP_001395332.1:p.Thr167Lysfs frameshift NM_001408404.1:c.499_500delAC NP_001395333.1:p.Thr167Lysfs frameshift NM_001408406.1:c.499_500delAC NP_001395335.1:p.Thr167Lysfs frameshift NM_001408407.1:c.496_497delAC NP_001395336.1:p.Thr166Lysfs frameshift NM_001408408.1:c.490_491delAC NP_001395337.1:p.Thr164Lysfs frameshift NM_001408409.1:c.421_422delAC NP_001395338.1:p.Thr141Lysfs frameshift NM_001408410.1:c.358_359delAC NP_001395339.1:p.Thr120Lysfs frameshift NM_001408411.1:c.421_422delAC NP_001395340.1:p.Thr141Lysfs frameshift NM_001408412.1:c.421_422delAC NP_001395341.1:p.Thr141Lysfs frameshift NM_001408413.1:c.418_419delAC NP_001395342.1:p.Thr140Lysfs frameshift NM_001408414.1:c.421_422delAC NP_001395343.1:p.Thr141Lysfs frameshift NM_001408415.1:c.421_422delAC NP_001395344.1:p.Thr141Lysfs frameshift NM_001408416.1:c.418_419delAC NP_001395345.1:p.Thr140Lysfs frameshift NM_001408418.1:c.499_500delAC NP_001395347.1:p.Thr167Lysfs frameshift NM_001408419.1:c.499_500delAC NP_001395348.1:p.Thr167Lysfs frameshift NM_001408420.1:c.499_500delAC NP_001395349.1:p.Thr167Lysfs frameshift NM_001408421.1:c.496_497delAC NP_001395350.1:p.Thr166Lysfs frameshift NM_001408422.1:c.499_500delAC NP_001395351.1:p.Thr167Lysfs frameshift NM_001408423.1:c.499_500delAC NP_001395352.1:p.Thr167Lysfs frameshift NM_001408424.1:c.496_497delAC NP_001395353.1:p.Thr166Lysfs frameshift NM_001408425.1:c.499_500delAC NP_001395354.1:p.Thr167Lysfs frameshift NM_001408426.1:c.499_500delAC NP_001395355.1:p.Thr167Lysfs frameshift NM_001408427.1:c.499_500delAC NP_001395356.1:p.Thr167Lysfs frameshift NM_001408428.1:c.499_500delAC NP_001395357.1:p.Thr167Lysfs frameshift NM_001408429.1:c.499_500delAC NP_001395358.1:p.Thr167Lysfs frameshift NM_001408430.1:c.499_500delAC NP_001395359.1:p.Thr167Lysfs frameshift NM_001408431.1:c.496_497delAC NP_001395360.1:p.Thr166Lysfs frameshift NM_001408432.1:c.496_497delAC NP_001395361.1:p.Thr166Lysfs frameshift NM_001408433.1:c.496_497delAC NP_001395362.1:p.Thr166Lysfs frameshift NM_001408434.1:c.496_497delAC NP_001395363.1:p.Thr166Lysfs frameshift NM_001408435.1:c.496_497delAC NP_001395364.1:p.Thr166Lysfs frameshift NM_001408436.1:c.499_500delAC NP_001395365.1:p.Thr167Lysfs frameshift NM_001408437.1:c.499_500delAC NP_001395366.1:p.Thr167Lysfs frameshift NM_001408438.1:c.499_500delAC NP_001395367.1:p.Thr167Lysfs frameshift NM_001408439.1:c.499_500delAC NP_001395368.1:p.Thr167Lysfs frameshift NM_001408440.1:c.499_500delAC NP_001395369.1:p.Thr167Lysfs frameshift NM_001408441.1:c.499_500delAC NP_001395370.1:p.Thr167Lysfs frameshift NM_001408442.1:c.499_500delAC NP_001395371.1:p.Thr167Lysfs frameshift NM_001408443.1:c.499_500delAC NP_001395372.1:p.Thr167Lysfs frameshift NM_001408444.1:c.499_500delAC NP_001395373.1:p.Thr167Lysfs frameshift NM_001408445.1:c.496_497delAC NP_001395374.1:p.Thr166Lysfs frameshift NM_001408446.1:c.496_497delAC NP_001395375.1:p.Thr166Lysfs frameshift NM_001408447.1:c.496_497delAC NP_001395376.1:p.Thr166Lysfs frameshift NM_001408448.1:c.496_497delAC NP_001395377.1:p.Thr166Lysfs frameshift NM_001408450.1:c.496_497delAC NP_001395379.1:p.Thr166Lysfs frameshift NM_001408451.1:c.364_365delAC NP_001395380.1:p.Thr122Lysfs frameshift NM_001408452.1:c.358_359delAC NP_001395381.1:p.Thr120Lysfs frameshift NM_001408453.1:c.358_359delAC NP_001395382.1:p.Thr120Lysfs frameshift NM_001408454.1:c.358_359delAC NP_001395383.1:p.Thr120Lysfs frameshift NM_001408455.1:c.358_359delAC NP_001395384.1:p.Thr120Lysfs frameshift NM_001408456.1:c.358_359delAC NP_001395385.1:p.Thr120Lysfs frameshift NM_001408457.1:c.358_359delAC NP_001395386.1:p.Thr120Lysfs frameshift NM_001408458.1:c.358_359delAC NP_001395387.1:p.Thr120Lysfs frameshift NM_001408459.1:c.358_359delAC NP_001395388.1:p.Thr120Lysfs frameshift NM_001408460.1:c.358_359delAC NP_001395389.1:p.Thr120Lysfs frameshift NM_001408461.1:c.358_359delAC NP_001395390.1:p.Thr120Lysfs frameshift NM_001408462.1:c.355_356delAC NP_001395391.1:p.Thr119Lysfs frameshift NM_001408463.1:c.355_356delAC NP_001395392.1:p.Thr119Lysfs frameshift NM_001408464.1:c.355_356delAC NP_001395393.1:p.Thr119Lysfs frameshift NM_001408465.1:c.355_356delAC NP_001395394.1:p.Thr119Lysfs frameshift NM_001408466.1:c.358_359delAC NP_001395395.1:p.Thr120Lysfs frameshift NM_001408467.1:c.358_359delAC NP_001395396.1:p.Thr120Lysfs frameshift NM_001408468.1:c.355_356delAC NP_001395397.1:p.Thr119Lysfs frameshift NM_001408469.1:c.358_359delAC NP_001395398.1:p.Thr120Lysfs frameshift NM_001408470.1:c.355_356delAC NP_001395399.1:p.Thr119Lysfs frameshift NM_001408472.1:c.499_500delAC NP_001395401.1:p.Thr167Lysfs frameshift NM_001408473.1:c.496_497delAC NP_001395402.1:p.Thr166Lysfs frameshift NM_001408474.1:c.421_422delAC NP_001395403.1:p.Thr141Lysfs frameshift NM_001408475.1:c.418_419delAC NP_001395404.1:p.Thr140Lysfs frameshift NM_001408476.1:c.421_422delAC NP_001395405.1:p.Thr141Lysfs frameshift NM_001408478.1:c.289_290delAC NP_001395407.1:p.Thr97Lysfs frameshift NM_001408479.1:c.289_290delAC NP_001395408.1:p.Thr97Lysfs frameshift NM_001408480.1:c.289_290delAC NP_001395409.1:p.Thr97Lysfs frameshift NM_001408481.1:c.289_290delAC NP_001395410.1:p.Thr97Lysfs frameshift NM_001408482.1:c.289_290delAC NP_001395411.1:p.Thr97Lysfs frameshift NM_001408483.1:c.289_290delAC NP_001395412.1:p.Thr97Lysfs frameshift NM_001408484.1:c.289_290delAC NP_001395413.1:p.Thr97Lysfs frameshift NM_001408485.1:c.289_290delAC NP_001395414.1:p.Thr97Lysfs frameshift NM_001408489.1:c.289_290delAC NP_001395418.1:p.Thr97Lysfs frameshift NM_001408490.1:c.286_287delAC NP_001395419.1:p.Thr96Lysfs frameshift NM_001408491.1:c.286_287delAC NP_001395420.1:p.Thr96Lysfs frameshift NM_001408492.1:c.289_290delAC NP_001395421.1:p.Thr97Lysfs frameshift NM_001408493.1:c.286_287delAC NP_001395422.1:p.Thr96Lysfs frameshift NM_001408494.1:c.499_500delAC NP_001395423.1:p.Thr167Lysfs frameshift NM_001408495.1:c.496_497delAC NP_001395424.1:p.Thr166Lysfs frameshift NM_001408496.1:c.358_359delAC NP_001395425.1:p.Thr120Lysfs frameshift NM_001408497.1:c.358_359delAC NP_001395426.1:p.Thr120Lysfs frameshift NM_001408498.1:c.358_359delAC NP_001395427.1:p.Thr120Lysfs frameshift NM_001408499.1:c.358_359delAC NP_001395428.1:p.Thr120Lysfs frameshift NM_001408500.1:c.358_359delAC NP_001395429.1:p.Thr120Lysfs frameshift NM_001408501.1:c.358_359delAC NP_001395430.1:p.Thr120Lysfs frameshift NM_001408502.1:c.289_290delAC NP_001395431.1:p.Thr97Lysfs frameshift NM_001408503.1:c.355_356delAC NP_001395432.1:p.Thr119Lysfs frameshift NM_001408504.1:c.355_356delAC NP_001395433.1:p.Thr119Lysfs frameshift NM_001408505.1:c.355_356delAC NP_001395434.1:p.Thr119Lysfs frameshift NM_001408506.1:c.289_290delAC NP_001395435.1:p.Thr97Lysfs frameshift NM_001408507.1:c.289_290delAC NP_001395436.1:p.Thr97Lysfs frameshift NM_001408508.1:c.286_287delAC NP_001395437.1:p.Thr96Lysfs frameshift NM_001408509.1:c.286_287delAC NP_001395438.1:p.Thr96Lysfs frameshift NM_001408510.1:c.118_119delAC NP_001395439.1:p.Thr40Lysfs frameshift NM_001408511.1:c.355_356delAC NP_001395440.1:p.Thr119Lysfs frameshift NM_001408512.1:c.118_119delAC NP_001395441.1:p.Thr40Lysfs frameshift NM_001408513.1:c.289_290delAC NP_001395442.1:p.Thr97Lysfs frameshift NM_001408514.1:c.289_290delAC NP_001395443.1:p.Thr97Lysfs frameshift NM_007294.3:c.499_500delAC NP_009225.1:p.Thr167Lysfs frameshift NM_007297.4:c.359_360del NP_009228.2:p.Thr120fs frameshift NM_007298.4:c.499_500delAC NP_009229.2:p.Thr167Lysfs frameshift NM_007299.4:c.500_501del NP_009230.2:p.Thr167fs frameshift NM_007300.4:c.500_501del NP_009231.2:p.Thr167fs frameshift NM_007304.2:c.499_500delAC NP_009235.2:p.Thr167Lysfs frameshift NR_027676.2:n.677_678del non-coding transcript variant NC_000017.11:g.43099822_43099823del NC_000017.10:g.41251839_41251840del NG_005905.2:g.118162_118163del LRG_292:g.118162_118163del LRG_292t1:c.500_501del LRG_292p1:p.Thr167fs - Protein change
- T120fs, T167fs
- Other names
- 619_620delCA
- Canonical SPDI
- NC_000017.11:43099820:TGT:T
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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.
-
-
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 |
13019 | 14822 |
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 | RCV000256648.6 |
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: SCV000323815.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
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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: SCV000326102.4
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 rs886040258 ...
HelpRecord last updated Mar 30, 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.