ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.412_418del (p.Leu138fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.412_418del (p.Leu138fs)
Variation ID: 55109 Accession: VCV000055109.3
- Type and length
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Deletion, 7 bp
- Location
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Cytogenetic: 17q21.31 17: 43104145-43104151 (GRCh38) [ NCBI UCSC ] 17: 41256162-41256168 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Sep 24, 2016 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.412_418del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu138fs frameshift NM_001407571.1:c.202_208delCTACAGA NP_001394500.1:p.Leu68Valfs frameshift NM_001407581.1:c.412_418delCTACAGA NP_001394510.1:p.Leu138Valfs frameshift NM_001407582.1:c.412_418delCTACAGA NP_001394511.1:p.Leu138Valfs frameshift NM_001407583.1:c.412_418delCTACAGA NP_001394512.1:p.Leu138Valfs frameshift NM_001407585.1:c.412_418delCTACAGA NP_001394514.1:p.Leu138Valfs frameshift NM_001407587.1:c.412_418delCTACAGA NP_001394516.1:p.Leu138Valfs frameshift NM_001407590.1:c.412_418delCTACAGA NP_001394519.1:p.Leu138Valfs frameshift NM_001407591.1:c.412_418delCTACAGA NP_001394520.1:p.Leu138Valfs frameshift NM_001407593.1:c.412_418delCTACAGA NP_001394522.1:p.Leu138Valfs frameshift NM_001407594.1:c.412_418delCTACAGA NP_001394523.1:p.Leu138Valfs frameshift NM_001407596.1:c.412_418delCTACAGA NP_001394525.1:p.Leu138Valfs frameshift NM_001407597.1:c.412_418delCTACAGA NP_001394526.1:p.Leu138Valfs frameshift NM_001407598.1:c.412_418delCTACAGA NP_001394527.1:p.Leu138Valfs frameshift NM_001407602.1:c.412_418delCTACAGA NP_001394531.1:p.Leu138Valfs frameshift NM_001407603.1:c.412_418delCTACAGA NP_001394532.1:p.Leu138Valfs frameshift NM_001407605.1:c.412_418delCTACAGA NP_001394534.1:p.Leu138Valfs frameshift NM_001407610.1:c.412_418delCTACAGA NP_001394539.1:p.Leu138Valfs frameshift NM_001407611.1:c.412_418delCTACAGA NP_001394540.1:p.Leu138Valfs frameshift NM_001407612.1:c.412_418delCTACAGA NP_001394541.1:p.Leu138Valfs frameshift NM_001407613.1:c.412_418delCTACAGA NP_001394542.1:p.Leu138Valfs frameshift NM_001407614.1:c.412_418delCTACAGA NP_001394543.1:p.Leu138Valfs frameshift NM_001407615.1:c.412_418delCTACAGA NP_001394544.1:p.Leu138Valfs frameshift NM_001407616.1:c.412_418delCTACAGA NP_001394545.1:p.Leu138Valfs frameshift NM_001407617.1:c.412_418delCTACAGA NP_001394546.1:p.Leu138Valfs frameshift NM_001407618.1:c.412_418delCTACAGA NP_001394547.1:p.Leu138Valfs frameshift NM_001407619.1:c.412_418delCTACAGA NP_001394548.1:p.Leu138Valfs frameshift NM_001407620.1:c.412_418delCTACAGA NP_001394549.1:p.Leu138Valfs frameshift NM_001407621.1:c.412_418delCTACAGA NP_001394550.1:p.Leu138Valfs frameshift NM_001407622.1:c.412_418delCTACAGA NP_001394551.1:p.Leu138Valfs frameshift NM_001407623.1:c.412_418delCTACAGA NP_001394552.1:p.Leu138Valfs frameshift NM_001407624.1:c.412_418delCTACAGA NP_001394553.1:p.Leu138Valfs frameshift NM_001407625.1:c.412_418delCTACAGA NP_001394554.1:p.Leu138Valfs frameshift NM_001407626.1:c.412_418delCTACAGA NP_001394555.1:p.Leu138Valfs frameshift NM_001407627.1:c.412_418delCTACAGA NP_001394556.1:p.Leu138Valfs frameshift NM_001407628.1:c.412_418delCTACAGA NP_001394557.1:p.Leu138Valfs frameshift NM_001407629.1:c.412_418delCTACAGA NP_001394558.1:p.Leu138Valfs frameshift NM_001407630.1:c.412_418delCTACAGA NP_001394559.1:p.Leu138Valfs frameshift NM_001407631.1:c.412_418delCTACAGA NP_001394560.1:p.Leu138Valfs frameshift NM_001407632.1:c.412_418delCTACAGA NP_001394561.1:p.Leu138Valfs frameshift NM_001407633.1:c.412_418delCTACAGA NP_001394562.1:p.Leu138Valfs frameshift NM_001407634.1:c.412_418delCTACAGA NP_001394563.1:p.Leu138Valfs frameshift NM_001407635.1:c.412_418delCTACAGA NP_001394564.1:p.Leu138Valfs frameshift NM_001407636.1:c.412_418delCTACAGA NP_001394565.1:p.Leu138Valfs frameshift NM_001407637.1:c.412_418delCTACAGA NP_001394566.1:p.Leu138Valfs frameshift NM_001407638.1:c.412_418delCTACAGA NP_001394567.1:p.Leu138Valfs frameshift NM_001407639.1:c.412_418delCTACAGA NP_001394568.1:p.Leu138Valfs frameshift NM_001407640.1:c.412_418delCTACAGA NP_001394569.1:p.Leu138Valfs frameshift NM_001407641.1:c.412_418delCTACAGA NP_001394570.1:p.Leu138Valfs frameshift NM_001407642.1:c.412_418delCTACAGA NP_001394571.1:p.Leu138Valfs frameshift NM_001407644.1:c.412_418delCTACAGA NP_001394573.1:p.Leu138Valfs frameshift NM_001407645.1:c.412_418delCTACAGA NP_001394574.1:p.Leu138Valfs frameshift NM_001407646.1:c.403_409delCTACAGA NP_001394575.1:p.Leu135Valfs frameshift NM_001407647.1:c.403_409delCTACAGA NP_001394576.1:p.Leu135Valfs frameshift NM_001407648.1:c.412_418delCTACAGA NP_001394577.1:p.Leu138Valfs frameshift NM_001407649.1:c.412_418delCTACAGA NP_001394578.1:p.Leu138Valfs frameshift NM_001407652.1:c.412_418delCTACAGA NP_001394581.1:p.Leu138Valfs frameshift NM_001407653.1:c.334_340delCTACAGA NP_001394582.1:p.Leu112Valfs frameshift NM_001407654.1:c.334_340delCTACAGA NP_001394583.1:p.Leu112Valfs frameshift NM_001407655.1:c.334_340delCTACAGA NP_001394584.1:p.Leu112Valfs frameshift NM_001407656.1:c.334_340delCTACAGA NP_001394585.1:p.Leu112Valfs frameshift NM_001407657.1:c.334_340delCTACAGA NP_001394586.1:p.Leu112Valfs frameshift NM_001407658.1:c.334_340delCTACAGA NP_001394587.1:p.Leu112Valfs frameshift NM_001407659.1:c.334_340delCTACAGA NP_001394588.1:p.Leu112Valfs frameshift NM_001407660.1:c.334_340delCTACAGA NP_001394589.1:p.Leu112Valfs frameshift NM_001407661.1:c.334_340delCTACAGA NP_001394590.1:p.Leu112Valfs frameshift NM_001407662.1:c.334_340delCTACAGA NP_001394591.1:p.Leu112Valfs frameshift NM_001407663.1:c.334_340delCTACAGA NP_001394592.1:p.Leu112Valfs frameshift NM_001407664.1:c.412_418delCTACAGA NP_001394593.1:p.Leu138Valfs frameshift NM_001407665.1:c.412_418delCTACAGA NP_001394594.1:p.Leu138Valfs frameshift NM_001407666.1:c.412_418delCTACAGA NP_001394595.1:p.Leu138Valfs frameshift NM_001407667.1:c.412_418delCTACAGA NP_001394596.1:p.Leu138Valfs frameshift NM_001407668.1:c.412_418delCTACAGA NP_001394597.1:p.Leu138Valfs frameshift NM_001407669.1:c.412_418delCTACAGA NP_001394598.1:p.Leu138Valfs frameshift NM_001407670.1:c.412_418delCTACAGA NP_001394599.1:p.Leu138Valfs frameshift NM_001407671.1:c.412_418delCTACAGA NP_001394600.1:p.Leu138Valfs frameshift NM_001407672.1:c.412_418delCTACAGA NP_001394601.1:p.Leu138Valfs frameshift NM_001407673.1:c.412_418delCTACAGA NP_001394602.1:p.Leu138Valfs frameshift NM_001407674.1:c.412_418delCTACAGA NP_001394603.1:p.Leu138Valfs frameshift NM_001407675.1:c.412_418delCTACAGA NP_001394604.1:p.Leu138Valfs frameshift NM_001407676.1:c.412_418delCTACAGA NP_001394605.1:p.Leu138Valfs frameshift NM_001407677.1:c.412_418delCTACAGA NP_001394606.1:p.Leu138Valfs frameshift NM_001407678.1:c.412_418delCTACAGA NP_001394607.1:p.Leu138Valfs frameshift NM_001407679.1:c.412_418delCTACAGA NP_001394608.1:p.Leu138Valfs frameshift NM_001407680.1:c.412_418delCTACAGA NP_001394609.1:p.Leu138Valfs frameshift NM_001407681.1:c.412_418delCTACAGA NP_001394610.1:p.Leu138Valfs frameshift NM_001407682.1:c.412_418delCTACAGA NP_001394611.1:p.Leu138Valfs frameshift NM_001407683.1:c.412_418delCTACAGA NP_001394612.1:p.Leu138Valfs frameshift NM_001407684.1:c.412_418delCTACAGA NP_001394613.1:p.Leu138Valfs frameshift NM_001407685.1:c.412_418delCTACAGA NP_001394614.1:p.Leu138Valfs frameshift NM_001407686.1:c.412_418delCTACAGA NP_001394615.1:p.Leu138Valfs frameshift NM_001407687.1:c.412_418delCTACAGA NP_001394616.1:p.Leu138Valfs frameshift NM_001407688.1:c.412_418delCTACAGA NP_001394617.1:p.Leu138Valfs frameshift NM_001407689.1:c.412_418delCTACAGA NP_001394618.1:p.Leu138Valfs frameshift NM_001407690.1:c.412_418delCTACAGA NP_001394619.1:p.Leu138Valfs frameshift NM_001407691.1:c.412_418delCTACAGA NP_001394620.1:p.Leu138Valfs frameshift NM_001407692.1:c.271_277delCTACAGA NP_001394621.1:p.Leu91Valfs frameshift NM_001407694.1:c.271_277delCTACAGA NP_001394623.1:p.Leu91Valfs frameshift NM_001407695.1:c.271_277delCTACAGA NP_001394624.1:p.Leu91Valfs frameshift NM_001407696.1:c.271_277delCTACAGA NP_001394625.1:p.Leu91Valfs frameshift NM_001407697.1:c.271_277delCTACAGA NP_001394626.1:p.Leu91Valfs frameshift NM_001407698.1:c.271_277delCTACAGA NP_001394627.1:p.Leu91Valfs frameshift NM_001407724.1:c.271_277delCTACAGA NP_001394653.1:p.Leu91Valfs frameshift NM_001407725.1:c.271_277delCTACAGA NP_001394654.1:p.Leu91Valfs frameshift NM_001407726.1:c.271_277delCTACAGA NP_001394655.1:p.Leu91Valfs frameshift NM_001407727.1:c.271_277delCTACAGA NP_001394656.1:p.Leu91Valfs frameshift NM_001407728.1:c.271_277delCTACAGA NP_001394657.1:p.Leu91Valfs frameshift NM_001407729.1:c.271_277delCTACAGA NP_001394658.1:p.Leu91Valfs frameshift NM_001407730.1:c.271_277delCTACAGA NP_001394659.1:p.Leu91Valfs frameshift NM_001407731.1:c.271_277delCTACAGA NP_001394660.1:p.Leu91Valfs frameshift NM_001407732.1:c.271_277delCTACAGA NP_001394661.1:p.Leu91Valfs frameshift NM_001407733.1:c.271_277delCTACAGA NP_001394662.1:p.Leu91Valfs frameshift NM_001407734.1:c.271_277delCTACAGA NP_001394663.1:p.Leu91Valfs frameshift NM_001407735.1:c.271_277delCTACAGA NP_001394664.1:p.Leu91Valfs frameshift NM_001407736.1:c.271_277delCTACAGA NP_001394665.1:p.Leu91Valfs frameshift NM_001407737.1:c.271_277delCTACAGA NP_001394666.1:p.Leu91Valfs frameshift NM_001407738.1:c.271_277delCTACAGA NP_001394667.1:p.Leu91Valfs frameshift NM_001407739.1:c.271_277delCTACAGA NP_001394668.1:p.Leu91Valfs frameshift NM_001407740.1:c.271_277delCTACAGA NP_001394669.1:p.Leu91Valfs frameshift NM_001407741.1:c.271_277delCTACAGA NP_001394670.1:p.Leu91Valfs frameshift NM_001407742.1:c.271_277delCTACAGA NP_001394671.1:p.Leu91Valfs frameshift NM_001407743.1:c.271_277delCTACAGA NP_001394672.1:p.Leu91Valfs frameshift NM_001407744.1:c.271_277delCTACAGA NP_001394673.1:p.Leu91Valfs frameshift NM_001407745.1:c.271_277delCTACAGA NP_001394674.1:p.Leu91Valfs frameshift NM_001407746.1:c.271_277delCTACAGA NP_001394675.1:p.Leu91Valfs frameshift NM_001407747.1:c.271_277delCTACAGA NP_001394676.1:p.Leu91Valfs frameshift NM_001407748.1:c.271_277delCTACAGA NP_001394677.1:p.Leu91Valfs frameshift NM_001407749.1:c.271_277delCTACAGA NP_001394678.1:p.Leu91Valfs frameshift NM_001407750.1:c.271_277delCTACAGA NP_001394679.1:p.Leu91Valfs frameshift NM_001407751.1:c.271_277delCTACAGA NP_001394680.1:p.Leu91Valfs frameshift NM_001407752.1:c.271_277delCTACAGA NP_001394681.1:p.Leu91Valfs frameshift NM_001407838.1:c.271_277delCTACAGA NP_001394767.1:p.Leu91Valfs frameshift NM_001407839.1:c.271_277delCTACAGA NP_001394768.1:p.Leu91Valfs frameshift NM_001407841.1:c.271_277delCTACAGA NP_001394770.1:p.Leu91Valfs frameshift NM_001407842.1:c.271_277delCTACAGA NP_001394771.1:p.Leu91Valfs frameshift NM_001407843.1:c.271_277delCTACAGA NP_001394772.1:p.Leu91Valfs frameshift NM_001407844.1:c.271_277delCTACAGA NP_001394773.1:p.Leu91Valfs frameshift NM_001407845.1:c.271_277delCTACAGA NP_001394774.1:p.Leu91Valfs frameshift NM_001407846.1:c.271_277delCTACAGA NP_001394775.1:p.Leu91Valfs frameshift NM_001407847.1:c.271_277delCTACAGA NP_001394776.1:p.Leu91Valfs frameshift NM_001407848.1:c.271_277delCTACAGA NP_001394777.1:p.Leu91Valfs frameshift NM_001407849.1:c.271_277delCTACAGA NP_001394778.1:p.Leu91Valfs frameshift NM_001407850.1:c.271_277delCTACAGA NP_001394779.1:p.Leu91Valfs frameshift NM_001407851.1:c.271_277delCTACAGA NP_001394780.1:p.Leu91Valfs frameshift NM_001407852.1:c.271_277delCTACAGA NP_001394781.1:p.Leu91Valfs frameshift NM_001407853.1:c.202_208delCTACAGA NP_001394782.1:p.Leu68Valfs frameshift NM_001407854.1:c.412_418delCTACAGA NP_001394783.1:p.Leu138Valfs frameshift NM_001407858.1:c.412_418delCTACAGA NP_001394787.1:p.Leu138Valfs frameshift NM_001407859.1:c.412_418delCTACAGA NP_001394788.1:p.Leu138Valfs frameshift NM_001407860.1:c.412_418delCTACAGA NP_001394789.1:p.Leu138Valfs frameshift NM_001407861.1:c.412_418delCTACAGA NP_001394790.1:p.Leu138Valfs frameshift NM_001407862.1:c.334_340delCTACAGA NP_001394791.1:p.Leu112Valfs frameshift NM_001407863.1:c.412_418delCTACAGA NP_001394792.1:p.Leu138Valfs frameshift NM_001407874.1:c.334_340delCTACAGA NP_001394803.1:p.Leu112Valfs frameshift NM_001407875.1:c.334_340delCTACAGA NP_001394804.1:p.Leu112Valfs frameshift NM_001407879.1:c.202_208delCTACAGA NP_001394808.1:p.Leu68Valfs frameshift NM_001407881.1:c.202_208delCTACAGA NP_001394810.1:p.Leu68Valfs frameshift NM_001407882.1:c.202_208delCTACAGA NP_001394811.1:p.Leu68Valfs frameshift NM_001407884.1:c.202_208delCTACAGA NP_001394813.1:p.Leu68Valfs frameshift NM_001407885.1:c.202_208delCTACAGA NP_001394814.1:p.Leu68Valfs frameshift NM_001407886.1:c.202_208delCTACAGA NP_001394815.1:p.Leu68Valfs frameshift NM_001407887.1:c.202_208delCTACAGA NP_001394816.1:p.Leu68Valfs frameshift NM_001407889.1:c.202_208delCTACAGA NP_001394818.1:p.Leu68Valfs frameshift NM_001407894.1:c.202_208delCTACAGA NP_001394823.1:p.Leu68Valfs frameshift NM_001407895.1:c.202_208delCTACAGA NP_001394824.1:p.Leu68Valfs frameshift NM_001407896.1:c.202_208delCTACAGA NP_001394825.1:p.Leu68Valfs frameshift NM_001407897.1:c.202_208delCTACAGA NP_001394826.1:p.Leu68Valfs frameshift NM_001407898.1:c.202_208delCTACAGA NP_001394827.1:p.Leu68Valfs frameshift NM_001407899.1:c.202_208delCTACAGA NP_001394828.1:p.Leu68Valfs frameshift NM_001407900.1:c.202_208delCTACAGA NP_001394829.1:p.Leu68Valfs frameshift NM_001407902.1:c.202_208delCTACAGA NP_001394831.1:p.Leu68Valfs frameshift NM_001407904.1:c.202_208delCTACAGA NP_001394833.1:p.Leu68Valfs frameshift NM_001407906.1:c.202_208delCTACAGA NP_001394835.1:p.Leu68Valfs frameshift NM_001407907.1:c.202_208delCTACAGA NP_001394836.1:p.Leu68Valfs frameshift NM_001407908.1:c.202_208delCTACAGA NP_001394837.1:p.Leu68Valfs frameshift NM_001407909.1:c.202_208delCTACAGA NP_001394838.1:p.Leu68Valfs frameshift NM_001407910.1:c.202_208delCTACAGA NP_001394839.1:p.Leu68Valfs frameshift NM_001407915.1:c.202_208delCTACAGA NP_001394844.1:p.Leu68Valfs frameshift NM_001407916.1:c.202_208delCTACAGA NP_001394845.1:p.Leu68Valfs frameshift NM_001407917.1:c.202_208delCTACAGA NP_001394846.1:p.Leu68Valfs frameshift NM_001407918.1:c.202_208delCTACAGA NP_001394847.1:p.Leu68Valfs frameshift NM_001407919.1:c.412_418delCTACAGA NP_001394848.1:p.Leu138Valfs frameshift NM_001407920.1:c.271_277delCTACAGA NP_001394849.1:p.Leu91Valfs frameshift NM_001407921.1:c.271_277delCTACAGA NP_001394850.1:p.Leu91Valfs frameshift NM_001407922.1:c.271_277delCTACAGA NP_001394851.1:p.Leu91Valfs frameshift NM_001407923.1:c.271_277delCTACAGA NP_001394852.1:p.Leu91Valfs frameshift NM_001407924.1:c.271_277delCTACAGA NP_001394853.1:p.Leu91Valfs frameshift NM_001407925.1:c.271_277delCTACAGA NP_001394854.1:p.Leu91Valfs frameshift NM_001407926.1:c.271_277delCTACAGA NP_001394855.1:p.Leu91Valfs frameshift NM_001407927.1:c.271_277delCTACAGA NP_001394856.1:p.Leu91Valfs frameshift NM_001407928.1:c.271_277delCTACAGA NP_001394857.1:p.Leu91Valfs frameshift NM_001407929.1:c.271_277delCTACAGA NP_001394858.1:p.Leu91Valfs frameshift NM_001407930.1:c.271_277delCTACAGA NP_001394859.1:p.Leu91Valfs frameshift NM_001407931.1:c.271_277delCTACAGA NP_001394860.1:p.Leu91Valfs frameshift NM_001407932.1:c.271_277delCTACAGA NP_001394861.1:p.Leu91Valfs frameshift NM_001407933.1:c.271_277delCTACAGA NP_001394862.1:p.Leu91Valfs frameshift NM_001407934.1:c.271_277delCTACAGA NP_001394863.1:p.Leu91Valfs frameshift NM_001407935.1:c.271_277delCTACAGA NP_001394864.1:p.Leu91Valfs frameshift NM_001407936.1:c.271_277delCTACAGA NP_001394865.1:p.Leu91Valfs frameshift NM_001407937.1:c.412_418delCTACAGA NP_001394866.1:p.Leu138Valfs frameshift NM_001407938.1:c.412_418delCTACAGA NP_001394867.1:p.Leu138Valfs frameshift NM_001407939.1:c.412_418delCTACAGA NP_001394868.1:p.Leu138Valfs frameshift NM_001407940.1:c.412_418delCTACAGA NP_001394869.1:p.Leu138Valfs frameshift NM_001407941.1:c.412_418delCTACAGA NP_001394870.1:p.Leu138Valfs frameshift NM_001407942.1:c.271_277delCTACAGA NP_001394871.1:p.Leu91Valfs frameshift NM_001407943.1:c.271_277delCTACAGA NP_001394872.1:p.Leu91Valfs frameshift NM_001407944.1:c.271_277delCTACAGA NP_001394873.1:p.Leu91Valfs frameshift NM_001407945.1:c.271_277delCTACAGA NP_001394874.1:p.Leu91Valfs frameshift NM_001407946.1:c.202_208delCTACAGA NP_001394875.1:p.Leu68Valfs frameshift NM_001407947.1:c.202_208delCTACAGA NP_001394876.1:p.Leu68Valfs frameshift NM_001407948.1:c.202_208delCTACAGA NP_001394877.1:p.Leu68Valfs frameshift NM_001407949.1:c.202_208delCTACAGA NP_001394878.1:p.Leu68Valfs frameshift NM_001407950.1:c.202_208delCTACAGA NP_001394879.1:p.Leu68Valfs frameshift NM_001407951.1:c.202_208delCTACAGA NP_001394880.1:p.Leu68Valfs frameshift NM_001407952.1:c.202_208delCTACAGA NP_001394881.1:p.Leu68Valfs frameshift NM_001407953.1:c.202_208delCTACAGA NP_001394882.1:p.Leu68Valfs frameshift NM_001407954.1:c.202_208delCTACAGA NP_001394883.1:p.Leu68Valfs frameshift NM_001407955.1:c.202_208delCTACAGA NP_001394884.1:p.Leu68Valfs frameshift NM_001407956.1:c.202_208delCTACAGA NP_001394885.1:p.Leu68Valfs frameshift NM_001407957.1:c.202_208delCTACAGA NP_001394886.1:p.Leu68Valfs frameshift NM_001407958.1:c.202_208delCTACAGA NP_001394887.1:p.Leu68Valfs frameshift NM_001407959.1:c.31_37delCTACAGA NP_001394888.1:p.Leu11Valfs frameshift NM_001407960.1:c.31_37delCTACAGA NP_001394889.1:p.Leu11Valfs frameshift NM_001407962.1:c.31_37delCTACAGA NP_001394891.1:p.Leu11Valfs frameshift NM_001407963.1:c.31_37delCTACAGA NP_001394892.1:p.Leu11Valfs frameshift NM_001407964.1:c.271_277delCTACAGA NP_001394893.1:p.Leu91Valfs frameshift NM_001407965.1:c.31_37delCTACAGA NP_001394894.1:p.Leu11Valfs frameshift NM_001407968.1:c.412_418delCTACAGA NP_001394897.1:p.Leu138Valfs frameshift NM_001407969.1:c.412_418delCTACAGA NP_001394898.1:p.Leu138Valfs frameshift NM_001407970.1:c.412_418delCTACAGA NP_001394899.1:p.Leu138Valfs frameshift NM_001407971.1:c.412_418delCTACAGA NP_001394900.1:p.Leu138Valfs frameshift NM_001407972.1:c.412_418delCTACAGA NP_001394901.1:p.Leu138Valfs frameshift NM_001407973.1:c.412_418delCTACAGA NP_001394902.1:p.Leu138Valfs frameshift NM_001407974.1:c.412_418delCTACAGA NP_001394903.1:p.Leu138Valfs frameshift NM_001407975.1:c.412_418delCTACAGA NP_001394904.1:p.Leu138Valfs frameshift NM_001407976.1:c.412_418delCTACAGA NP_001394905.1:p.Leu138Valfs frameshift NM_001407977.1:c.412_418delCTACAGA NP_001394906.1:p.Leu138Valfs frameshift NM_001407978.1:c.412_418delCTACAGA NP_001394907.1:p.Leu138Valfs frameshift NM_001407979.1:c.412_418delCTACAGA NP_001394908.1:p.Leu138Valfs frameshift NM_001407980.1:c.412_418delCTACAGA NP_001394909.1:p.Leu138Valfs frameshift NM_001407981.1:c.412_418delCTACAGA NP_001394910.1:p.Leu138Valfs frameshift NM_001407982.1:c.412_418delCTACAGA NP_001394911.1:p.Leu138Valfs frameshift NM_001407983.1:c.412_418delCTACAGA NP_001394912.1:p.Leu138Valfs frameshift NM_001407984.1:c.412_418delCTACAGA NP_001394913.1:p.Leu138Valfs frameshift NM_001407985.1:c.412_418delCTACAGA NP_001394914.1:p.Leu138Valfs frameshift NM_001407986.1:c.412_418delCTACAGA NP_001394915.1:p.Leu138Valfs frameshift NM_001407990.1:c.412_418delCTACAGA NP_001394919.1:p.Leu138Valfs frameshift NM_001407991.1:c.412_418delCTACAGA NP_001394920.1:p.Leu138Valfs frameshift NM_001407992.1:c.412_418delCTACAGA NP_001394921.1:p.Leu138Valfs frameshift NM_001407993.1:c.412_418delCTACAGA NP_001394922.1:p.Leu138Valfs frameshift NM_001408392.1:c.412_418delCTACAGA NP_001395321.1:p.Leu138Valfs frameshift NM_001408396.1:c.412_418delCTACAGA NP_001395325.1:p.Leu138Valfs frameshift NM_001408397.1:c.412_418delCTACAGA NP_001395326.1:p.Leu138Valfs frameshift NM_001408398.1:c.412_418delCTACAGA NP_001395327.1:p.Leu138Valfs frameshift NM_001408399.1:c.412_418delCTACAGA NP_001395328.1:p.Leu138Valfs frameshift NM_001408400.1:c.412_418delCTACAGA NP_001395329.1:p.Leu138Valfs frameshift NM_001408401.1:c.412_418delCTACAGA NP_001395330.1:p.Leu138Valfs frameshift NM_001408402.1:c.412_418delCTACAGA NP_001395331.1:p.Leu138Valfs frameshift NM_001408403.1:c.412_418delCTACAGA NP_001395332.1:p.Leu138Valfs frameshift NM_001408404.1:c.412_418delCTACAGA NP_001395333.1:p.Leu138Valfs frameshift NM_001408406.1:c.412_418delCTACAGA NP_001395335.1:p.Leu138Valfs frameshift NM_001408407.1:c.412_418delCTACAGA NP_001395336.1:p.Leu138Valfs frameshift NM_001408408.1:c.403_409delCTACAGA NP_001395337.1:p.Leu135Valfs frameshift NM_001408409.1:c.334_340delCTACAGA NP_001395338.1:p.Leu112Valfs frameshift NM_001408410.1:c.271_277delCTACAGA NP_001395339.1:p.Leu91Valfs frameshift NM_001408411.1:c.334_340delCTACAGA NP_001395340.1:p.Leu112Valfs frameshift NM_001408412.1:c.334_340delCTACAGA NP_001395341.1:p.Leu112Valfs frameshift NM_001408413.1:c.334_340delCTACAGA NP_001395342.1:p.Leu112Valfs frameshift NM_001408414.1:c.334_340delCTACAGA NP_001395343.1:p.Leu112Valfs frameshift NM_001408415.1:c.334_340delCTACAGA NP_001395344.1:p.Leu112Valfs frameshift NM_001408416.1:c.334_340delCTACAGA NP_001395345.1:p.Leu112Valfs frameshift NM_001408418.1:c.412_418delCTACAGA NP_001395347.1:p.Leu138Valfs frameshift NM_001408419.1:c.412_418delCTACAGA NP_001395348.1:p.Leu138Valfs frameshift NM_001408420.1:c.412_418delCTACAGA NP_001395349.1:p.Leu138Valfs frameshift NM_001408421.1:c.412_418delCTACAGA NP_001395350.1:p.Leu138Valfs frameshift NM_001408422.1:c.412_418delCTACAGA NP_001395351.1:p.Leu138Valfs frameshift NM_001408423.1:c.412_418delCTACAGA NP_001395352.1:p.Leu138Valfs frameshift NM_001408424.1:c.412_418delCTACAGA NP_001395353.1:p.Leu138Valfs frameshift NM_001408425.1:c.412_418delCTACAGA NP_001395354.1:p.Leu138Valfs frameshift NM_001408426.1:c.412_418delCTACAGA NP_001395355.1:p.Leu138Valfs frameshift NM_001408427.1:c.412_418delCTACAGA NP_001395356.1:p.Leu138Valfs frameshift NM_001408428.1:c.412_418delCTACAGA NP_001395357.1:p.Leu138Valfs frameshift NM_001408429.1:c.412_418delCTACAGA NP_001395358.1:p.Leu138Valfs frameshift NM_001408430.1:c.412_418delCTACAGA NP_001395359.1:p.Leu138Valfs frameshift NM_001408431.1:c.412_418delCTACAGA NP_001395360.1:p.Leu138Valfs frameshift NM_001408432.1:c.412_418delCTACAGA NP_001395361.1:p.Leu138Valfs frameshift NM_001408433.1:c.412_418delCTACAGA NP_001395362.1:p.Leu138Valfs frameshift NM_001408434.1:c.412_418delCTACAGA NP_001395363.1:p.Leu138Valfs frameshift NM_001408435.1:c.412_418delCTACAGA NP_001395364.1:p.Leu138Valfs frameshift NM_001408436.1:c.412_418delCTACAGA NP_001395365.1:p.Leu138Valfs frameshift NM_001408437.1:c.412_418delCTACAGA NP_001395366.1:p.Leu138Valfs frameshift NM_001408438.1:c.412_418delCTACAGA NP_001395367.1:p.Leu138Valfs frameshift NM_001408439.1:c.412_418delCTACAGA NP_001395368.1:p.Leu138Valfs frameshift NM_001408440.1:c.412_418delCTACAGA NP_001395369.1:p.Leu138Valfs frameshift NM_001408441.1:c.412_418delCTACAGA NP_001395370.1:p.Leu138Valfs frameshift NM_001408442.1:c.412_418delCTACAGA NP_001395371.1:p.Leu138Valfs frameshift NM_001408443.1:c.412_418delCTACAGA NP_001395372.1:p.Leu138Valfs frameshift NM_001408444.1:c.412_418delCTACAGA NP_001395373.1:p.Leu138Valfs frameshift NM_001408445.1:c.412_418delCTACAGA NP_001395374.1:p.Leu138Valfs frameshift NM_001408446.1:c.412_418delCTACAGA NP_001395375.1:p.Leu138Valfs frameshift NM_001408447.1:c.412_418delCTACAGA NP_001395376.1:p.Leu138Valfs frameshift NM_001408448.1:c.412_418delCTACAGA NP_001395377.1:p.Leu138Valfs frameshift NM_001408450.1:c.412_418delCTACAGA NP_001395379.1:p.Leu138Valfs frameshift NM_001408451.1:c.280_286delCTACAGA NP_001395380.1:p.Leu94Valfs frameshift NM_001408452.1:c.271_277delCTACAGA NP_001395381.1:p.Leu91Valfs frameshift NM_001408453.1:c.271_277delCTACAGA NP_001395382.1:p.Leu91Valfs frameshift NM_001408454.1:c.271_277delCTACAGA NP_001395383.1:p.Leu91Valfs frameshift NM_001408455.1:c.271_277delCTACAGA NP_001395384.1:p.Leu91Valfs frameshift NM_001408456.1:c.271_277delCTACAGA NP_001395385.1:p.Leu91Valfs frameshift NM_001408457.1:c.271_277delCTACAGA NP_001395386.1:p.Leu91Valfs frameshift NM_001408458.1:c.271_277delCTACAGA NP_001395387.1:p.Leu91Valfs frameshift NM_001408459.1:c.271_277delCTACAGA NP_001395388.1:p.Leu91Valfs frameshift NM_001408460.1:c.271_277delCTACAGA NP_001395389.1:p.Leu91Valfs frameshift NM_001408461.1:c.271_277delCTACAGA NP_001395390.1:p.Leu91Valfs frameshift NM_001408462.1:c.271_277delCTACAGA NP_001395391.1:p.Leu91Valfs frameshift NM_001408463.1:c.271_277delCTACAGA NP_001395392.1:p.Leu91Valfs frameshift NM_001408464.1:c.271_277delCTACAGA NP_001395393.1:p.Leu91Valfs frameshift NM_001408465.1:c.271_277delCTACAGA NP_001395394.1:p.Leu91Valfs frameshift NM_001408466.1:c.271_277delCTACAGA NP_001395395.1:p.Leu91Valfs frameshift NM_001408467.1:c.271_277delCTACAGA NP_001395396.1:p.Leu91Valfs frameshift NM_001408468.1:c.271_277delCTACAGA NP_001395397.1:p.Leu91Valfs frameshift NM_001408469.1:c.271_277delCTACAGA NP_001395398.1:p.Leu91Valfs frameshift NM_001408470.1:c.271_277delCTACAGA NP_001395399.1:p.Leu91Valfs frameshift NM_001408472.1:c.412_418delCTACAGA NP_001395401.1:p.Leu138Valfs frameshift NM_001408473.1:c.412_418delCTACAGA NP_001395402.1:p.Leu138Valfs frameshift NM_001408474.1:c.334_340delCTACAGA NP_001395403.1:p.Leu112Valfs frameshift NM_001408475.1:c.334_340delCTACAGA NP_001395404.1:p.Leu112Valfs frameshift NM_001408476.1:c.334_340delCTACAGA NP_001395405.1:p.Leu112Valfs frameshift NM_001408478.1:c.202_208delCTACAGA NP_001395407.1:p.Leu68Valfs frameshift NM_001408479.1:c.202_208delCTACAGA NP_001395408.1:p.Leu68Valfs frameshift NM_001408480.1:c.202_208delCTACAGA NP_001395409.1:p.Leu68Valfs frameshift NM_001408481.1:c.202_208delCTACAGA NP_001395410.1:p.Leu68Valfs frameshift NM_001408482.1:c.202_208delCTACAGA NP_001395411.1:p.Leu68Valfs frameshift NM_001408483.1:c.202_208delCTACAGA NP_001395412.1:p.Leu68Valfs frameshift NM_001408484.1:c.202_208delCTACAGA NP_001395413.1:p.Leu68Valfs frameshift NM_001408485.1:c.202_208delCTACAGA NP_001395414.1:p.Leu68Valfs frameshift NM_001408489.1:c.202_208delCTACAGA NP_001395418.1:p.Leu68Valfs frameshift NM_001408490.1:c.202_208delCTACAGA NP_001395419.1:p.Leu68Valfs frameshift NM_001408491.1:c.202_208delCTACAGA NP_001395420.1:p.Leu68Valfs frameshift NM_001408492.1:c.202_208delCTACAGA NP_001395421.1:p.Leu68Valfs frameshift NM_001408493.1:c.202_208delCTACAGA NP_001395422.1:p.Leu68Valfs frameshift NM_001408494.1:c.412_418delCTACAGA NP_001395423.1:p.Leu138Valfs frameshift NM_001408495.1:c.412_418delCTACAGA NP_001395424.1:p.Leu138Valfs frameshift NM_001408496.1:c.271_277delCTACAGA NP_001395425.1:p.Leu91Valfs frameshift NM_001408497.1:c.271_277delCTACAGA NP_001395426.1:p.Leu91Valfs frameshift NM_001408498.1:c.271_277delCTACAGA NP_001395427.1:p.Leu91Valfs frameshift NM_001408499.1:c.271_277delCTACAGA NP_001395428.1:p.Leu91Valfs frameshift NM_001408500.1:c.271_277delCTACAGA NP_001395429.1:p.Leu91Valfs frameshift NM_001408501.1:c.271_277delCTACAGA NP_001395430.1:p.Leu91Valfs frameshift NM_001408502.1:c.202_208delCTACAGA NP_001395431.1:p.Leu68Valfs frameshift NM_001408503.1:c.271_277delCTACAGA NP_001395432.1:p.Leu91Valfs frameshift NM_001408504.1:c.271_277delCTACAGA NP_001395433.1:p.Leu91Valfs frameshift NM_001408505.1:c.271_277delCTACAGA NP_001395434.1:p.Leu91Valfs frameshift NM_001408506.1:c.202_208delCTACAGA NP_001395435.1:p.Leu68Valfs frameshift NM_001408507.1:c.202_208delCTACAGA NP_001395436.1:p.Leu68Valfs frameshift NM_001408508.1:c.202_208delCTACAGA NP_001395437.1:p.Leu68Valfs frameshift NM_001408509.1:c.202_208delCTACAGA NP_001395438.1:p.Leu68Valfs frameshift NM_001408510.1:c.31_37delCTACAGA NP_001395439.1:p.Leu11Valfs frameshift NM_001408511.1:c.271_277delCTACAGA NP_001395440.1:p.Leu91Valfs frameshift NM_001408512.1:c.31_37delCTACAGA NP_001395441.1:p.Leu11Valfs frameshift NM_001408513.1:c.202_208delCTACAGA NP_001395442.1:p.Leu68Valfs frameshift NM_001408514.1:c.202_208delCTACAGA NP_001395443.1:p.Leu68Valfs frameshift NM_007297.4:c.271_277del NP_009228.2:p.Leu91fs frameshift NM_007298.4:c.412_418delCTACAGA NP_009229.2:p.Leu138Valfs frameshift NM_007299.4:c.412_418del NP_009230.2:p.Leu138fs frameshift NM_007300.4:c.412_418del NP_009231.2:p.Leu138fs frameshift NM_007304.2:c.412_418delCTACAGA NP_009235.2:p.Leu138Valfs frameshift NR_027676.2:n.592_598del non-coding transcript variant NC_000017.11:g.43104145_43104151del NC_000017.10:g.41256162_41256168del NG_005905.2:g.113833_113839del LRG_292:g.113833_113839del LRG_292t1:c.412_418del LRG_292p1:p.Leu138Valfs U14680.1:n.531_537delCTACAGA - Protein change
- L91fs, L138fs
- Other names
- 531del7
- Canonical SPDI
- NC_000017.11:43104144:TCTGTAG:
-
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 |
12940 | 14730 |
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
|
Sep 8, 2016 | RCV000112562.4 |
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
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299456.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145391.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
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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 rs80357816 ...
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.