ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1285del (p.Lys428_Ile429insTer)
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.1285del (p.Lys428_Ile429insTer)
Variation ID: 579869 Accession: VCV000579869.9
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094246 (GRCh38) [ NCBI UCSC ] 17: 41246263 (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 Oct 10, 2018 Feb 14, 2024 Mar 3, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1285del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys428_Ile429insTer nonsense NM_001407571.1:c.1072del NP_001394500.1:p.Lys357_Ile358insTer nonsense NM_001407581.1:c.1285del NP_001394510.1:p.Lys428_Ile429insTer nonsense NM_001407582.1:c.1285del NP_001394511.1:p.Lys428_Ile429insTer nonsense NM_001407583.1:c.1285del NP_001394512.1:p.Lys428_Ile429insTer nonsense NM_001407585.1:c.1285del NP_001394514.1:p.Lys428_Ile429insTer nonsense NM_001407587.1:c.1282del NP_001394516.1:p.Lys427_Ile428insTer nonsense NM_001407590.1:c.1282del NP_001394519.1:p.Lys427_Ile428insTer nonsense NM_001407591.1:c.1282del NP_001394520.1:p.Lys427_Ile428insTer nonsense NM_001407593.1:c.1285del NP_001394522.1:p.Lys428_Ile429insTer nonsense NM_001407594.1:c.1285del NP_001394523.1:p.Lys428_Ile429insTer nonsense NM_001407596.1:c.1285del NP_001394525.1:p.Lys428_Ile429insTer nonsense NM_001407597.1:c.1285del NP_001394526.1:p.Lys428_Ile429insTer nonsense NM_001407598.1:c.1285del NP_001394527.1:p.Lys428_Ile429insTer nonsense NM_001407602.1:c.1285del NP_001394531.1:p.Lys428_Ile429insTer nonsense NM_001407603.1:c.1285del NP_001394532.1:p.Lys428_Ile429insTer nonsense NM_001407605.1:c.1285del NP_001394534.1:p.Lys428_Ile429insTer nonsense NM_001407610.1:c.1282del NP_001394539.1:p.Lys427_Ile428insTer nonsense NM_001407611.1:c.1282del NP_001394540.1:p.Lys427_Ile428insTer nonsense NM_001407612.1:c.1282del NP_001394541.1:p.Lys427_Ile428insTer nonsense NM_001407613.1:c.1282del NP_001394542.1:p.Lys427_Ile428insTer nonsense NM_001407614.1:c.1282del NP_001394543.1:p.Lys427_Ile428insTer nonsense NM_001407615.1:c.1282del NP_001394544.1:p.Lys427_Ile428insTer nonsense NM_001407616.1:c.1285del NP_001394545.1:p.Lys428_Ile429insTer nonsense NM_001407617.1:c.1285del NP_001394546.1:p.Lys428_Ile429insTer nonsense NM_001407618.1:c.1285del NP_001394547.1:p.Lys428_Ile429insTer nonsense NM_001407619.1:c.1285del NP_001394548.1:p.Lys428_Ile429insTer nonsense NM_001407620.1:c.1285del NP_001394549.1:p.Lys428_Ile429insTer nonsense NM_001407621.1:c.1285del NP_001394550.1:p.Lys428_Ile429insTer nonsense NM_001407622.1:c.1285del NP_001394551.1:p.Lys428_Ile429insTer nonsense NM_001407623.1:c.1285del NP_001394552.1:p.Lys428_Ile429insTer nonsense NM_001407624.1:c.1285del NP_001394553.1:p.Lys428_Ile429insTer nonsense NM_001407625.1:c.1285del NP_001394554.1:p.Lys428_Ile429insTer nonsense NM_001407626.1:c.1285del NP_001394555.1:p.Lys428_Ile429insTer nonsense NM_001407627.1:c.1282del NP_001394556.1:p.Lys427_Ile428insTer nonsense NM_001407628.1:c.1282del NP_001394557.1:p.Lys427_Ile428insTer nonsense NM_001407629.1:c.1282del NP_001394558.1:p.Lys427_Ile428insTer nonsense NM_001407630.1:c.1282del NP_001394559.1:p.Lys427_Ile428insTer nonsense NM_001407631.1:c.1282del NP_001394560.1:p.Lys427_Ile428insTer nonsense NM_001407632.1:c.1282del NP_001394561.1:p.Lys427_Ile428insTer nonsense NM_001407633.1:c.1282del NP_001394562.1:p.Lys427_Ile428insTer nonsense NM_001407634.1:c.1282del NP_001394563.1:p.Lys427_Ile428insTer nonsense NM_001407635.1:c.1282del NP_001394564.1:p.Lys427_Ile428insTer nonsense NM_001407636.1:c.1282del NP_001394565.1:p.Lys427_Ile428insTer nonsense NM_001407637.1:c.1282del NP_001394566.1:p.Lys427_Ile428insTer nonsense NM_001407638.1:c.1282del NP_001394567.1:p.Lys427_Ile428insTer nonsense NM_001407639.1:c.1285del NP_001394568.1:p.Lys428_Ile429insTer nonsense NM_001407640.1:c.1285del NP_001394569.1:p.Lys428_Ile429insTer nonsense NM_001407641.1:c.1285del NP_001394570.1:p.Lys428_Ile429insTer nonsense NM_001407642.1:c.1285del NP_001394571.1:p.Lys428_Ile429insTer nonsense NM_001407644.1:c.1282del NP_001394573.1:p.Lys427_Ile428insTer nonsense NM_001407645.1:c.1282del NP_001394574.1:p.Lys427_Ile428insTer nonsense NM_001407646.1:c.1276del NP_001394575.1:p.Lys425_Ile426insTer nonsense NM_001407647.1:c.1276del NP_001394576.1:p.Lys425_Ile426insTer nonsense NM_001407648.1:c.1162del NP_001394577.1:p.Lys387_Ile388insTer nonsense NM_001407649.1:c.1159del NP_001394578.1:p.Lys386_Ile387insTer nonsense NM_001407652.1:c.1285del NP_001394581.1:p.Lys428_Ile429insTer nonsense NM_001407653.1:c.1207del NP_001394582.1:p.Lys402_Ile403insTer nonsense NM_001407654.1:c.1207del NP_001394583.1:p.Lys402_Ile403insTer nonsense NM_001407655.1:c.1207del NP_001394584.1:p.Lys402_Ile403insTer nonsense NM_001407656.1:c.1207del NP_001394585.1:p.Lys402_Ile403insTer nonsense NM_001407657.1:c.1207del NP_001394586.1:p.Lys402_Ile403insTer nonsense NM_001407658.1:c.1207del NP_001394587.1:p.Lys402_Ile403insTer nonsense NM_001407659.1:c.1204del NP_001394588.1:p.Lys401_Ile402insTer nonsense NM_001407660.1:c.1204del NP_001394589.1:p.Lys401_Ile402insTer nonsense NM_001407661.1:c.1204del NP_001394590.1:p.Lys401_Ile402insTer nonsense NM_001407662.1:c.1204del NP_001394591.1:p.Lys401_Ile402insTer nonsense NM_001407663.1:c.1207del NP_001394592.1:p.Lys402_Ile403insTer nonsense NM_001407664.1:c.1162del NP_001394593.1:p.Lys387_Ile388insTer nonsense NM_001407665.1:c.1162del NP_001394594.1:p.Lys387_Ile388insTer nonsense NM_001407666.1:c.1162del NP_001394595.1:p.Lys387_Ile388insTer nonsense NM_001407667.1:c.1162del NP_001394596.1:p.Lys387_Ile388insTer nonsense NM_001407668.1:c.1162del NP_001394597.1:p.Lys387_Ile388insTer nonsense NM_001407669.1:c.1162del NP_001394598.1:p.Lys387_Ile388insTer nonsense NM_001407670.1:c.1159del NP_001394599.1:p.Lys386_Ile387insTer nonsense NM_001407671.1:c.1159del NP_001394600.1:p.Lys386_Ile387insTer nonsense NM_001407672.1:c.1159del NP_001394601.1:p.Lys386_Ile387insTer nonsense NM_001407673.1:c.1159del NP_001394602.1:p.Lys386_Ile387insTer nonsense NM_001407674.1:c.1162del NP_001394603.1:p.Lys387_Ile388insTer nonsense NM_001407675.1:c.1162del NP_001394604.1:p.Lys387_Ile388insTer nonsense NM_001407676.1:c.1162del NP_001394605.1:p.Lys387_Ile388insTer nonsense NM_001407677.1:c.1162del NP_001394606.1:p.Lys387_Ile388insTer nonsense NM_001407678.1:c.1162del NP_001394607.1:p.Lys387_Ile388insTer nonsense NM_001407679.1:c.1162del NP_001394608.1:p.Lys387_Ile388insTer nonsense NM_001407680.1:c.1162del NP_001394609.1:p.Lys387_Ile388insTer nonsense NM_001407681.1:c.1162del NP_001394610.1:p.Lys387_Ile388insTer nonsense NM_001407682.1:c.1162del NP_001394611.1:p.Lys387_Ile388insTer nonsense NM_001407683.1:c.1162del NP_001394612.1:p.Lys387_Ile388insTer nonsense NM_001407684.1:c.1285del NP_001394613.1:p.Lys428_Ile429insTer nonsense NM_001407685.1:c.1159del NP_001394614.1:p.Lys386_Ile387insTer nonsense NM_001407686.1:c.1159del NP_001394615.1:p.Lys386_Ile387insTer nonsense NM_001407687.1:c.1159del NP_001394616.1:p.Lys386_Ile387insTer nonsense NM_001407688.1:c.1159del NP_001394617.1:p.Lys386_Ile387insTer nonsense NM_001407689.1:c.1159del NP_001394618.1:p.Lys386_Ile387insTer nonsense NM_001407690.1:c.1159del NP_001394619.1:p.Lys386_Ile387insTer nonsense NM_001407691.1:c.1159del NP_001394620.1:p.Lys386_Ile387insTer nonsense NM_001407692.1:c.1144del NP_001394621.1:p.Lys381_Ile382insTer nonsense NM_001407694.1:c.1144del NP_001394623.1:p.Lys381_Ile382insTer nonsense NM_001407695.1:c.1144del NP_001394624.1:p.Lys381_Ile382insTer nonsense NM_001407696.1:c.1144del NP_001394625.1:p.Lys381_Ile382insTer nonsense NM_001407697.1:c.1144del NP_001394626.1:p.Lys381_Ile382insTer nonsense NM_001407698.1:c.1144del NP_001394627.1:p.Lys381_Ile382insTer nonsense NM_001407724.1:c.1144del NP_001394653.1:p.Lys381_Ile382insTer nonsense NM_001407725.1:c.1144del NP_001394654.1:p.Lys381_Ile382insTer nonsense NM_001407726.1:c.1144del NP_001394655.1:p.Lys381_Ile382insTer nonsense NM_001407727.1:c.1144del NP_001394656.1:p.Lys381_Ile382insTer nonsense NM_001407728.1:c.1144del NP_001394657.1:p.Lys381_Ile382insTer nonsense NM_001407729.1:c.1144del NP_001394658.1:p.Lys381_Ile382insTer nonsense NM_001407730.1:c.1144del NP_001394659.1:p.Lys381_Ile382insTer nonsense NM_001407731.1:c.1144del NP_001394660.1:p.Lys381_Ile382insTer nonsense NM_001407732.1:c.1144del NP_001394661.1:p.Lys381_Ile382insTer nonsense NM_001407733.1:c.1144del NP_001394662.1:p.Lys381_Ile382insTer nonsense NM_001407734.1:c.1144del NP_001394663.1:p.Lys381_Ile382insTer nonsense NM_001407735.1:c.1144del NP_001394664.1:p.Lys381_Ile382insTer nonsense NM_001407736.1:c.1144del NP_001394665.1:p.Lys381_Ile382insTer nonsense NM_001407737.1:c.1144del NP_001394666.1:p.Lys381_Ile382insTer nonsense NM_001407738.1:c.1144del NP_001394667.1:p.Lys381_Ile382insTer nonsense NM_001407739.1:c.1144del NP_001394668.1:p.Lys381_Ile382insTer nonsense NM_001407740.1:c.1141del NP_001394669.1:p.Lys380_Ile381insTer nonsense NM_001407741.1:c.1141del NP_001394670.1:p.Lys380_Ile381insTer nonsense NM_001407742.1:c.1141del NP_001394671.1:p.Lys380_Ile381insTer nonsense NM_001407743.1:c.1141del NP_001394672.1:p.Lys380_Ile381insTer nonsense NM_001407744.1:c.1141del NP_001394673.1:p.Lys380_Ile381insTer nonsense NM_001407745.1:c.1141del NP_001394674.1:p.Lys380_Ile381insTer nonsense NM_001407746.1:c.1141del NP_001394675.1:p.Lys380_Ile381insTer nonsense NM_001407747.1:c.1141del NP_001394676.1:p.Lys380_Ile381insTer nonsense NM_001407748.1:c.1141del NP_001394677.1:p.Lys380_Ile381insTer nonsense NM_001407749.1:c.1141del NP_001394678.1:p.Lys380_Ile381insTer nonsense NM_001407750.1:c.1144del NP_001394679.1:p.Lys381_Ile382insTer nonsense NM_001407751.1:c.1144del NP_001394680.1:p.Lys381_Ile382insTer nonsense NM_001407752.1:c.1144del NP_001394681.1:p.Lys381_Ile382insTer nonsense NM_001407838.1:c.1141del NP_001394767.1:p.Lys380_Ile381insTer nonsense NM_001407839.1:c.1141del NP_001394768.1:p.Lys380_Ile381insTer nonsense NM_001407841.1:c.1141del NP_001394770.1:p.Lys380_Ile381insTer nonsense NM_001407842.1:c.1141del NP_001394771.1:p.Lys380_Ile381insTer nonsense NM_001407843.1:c.1141del NP_001394772.1:p.Lys380_Ile381insTer nonsense NM_001407844.1:c.1141del NP_001394773.1:p.Lys380_Ile381insTer nonsense NM_001407845.1:c.1141del NP_001394774.1:p.Lys380_Ile381insTer nonsense NM_001407846.1:c.1141del NP_001394775.1:p.Lys380_Ile381insTer nonsense NM_001407847.1:c.1141del NP_001394776.1:p.Lys380_Ile381insTer nonsense NM_001407848.1:c.1141del NP_001394777.1:p.Lys380_Ile381insTer nonsense NM_001407849.1:c.1141del NP_001394778.1:p.Lys380_Ile381insTer nonsense NM_001407850.1:c.1144del NP_001394779.1:p.Lys381_Ile382insTer nonsense NM_001407851.1:c.1144del NP_001394780.1:p.Lys381_Ile382insTer nonsense NM_001407852.1:c.1144del NP_001394781.1:p.Lys381_Ile382insTer nonsense NM_001407853.1:c.1072del NP_001394782.1:p.Lys357_Ile358insTer nonsense NM_001407854.1:c.1285del NP_001394783.1:p.Lys428_Ile429insTer nonsense NM_001407858.1:c.1285del NP_001394787.1:p.Lys428_Ile429insTer nonsense NM_001407859.1:c.1285del NP_001394788.1:p.Lys428_Ile429insTer nonsense NM_001407860.1:c.1282del NP_001394789.1:p.Lys427_Ile428insTer nonsense NM_001407861.1:c.1282del NP_001394790.1:p.Lys427_Ile428insTer nonsense NM_001407862.1:c.1084del NP_001394791.1:p.Lys361_Ile362insTer nonsense NM_001407863.1:c.1162del NP_001394792.1:p.Lys387_Ile388insTer nonsense NM_001407874.1:c.1081del NP_001394803.1:p.Lys360_Ile361insTer nonsense NM_001407875.1:c.1081del NP_001394804.1:p.Lys360_Ile361insTer nonsense NM_001407879.1:c.1075del NP_001394808.1:p.Lys358_Ile359insTer nonsense NM_001407881.1:c.1075del NP_001394810.1:p.Lys358_Ile359insTer nonsense NM_001407882.1:c.1075del NP_001394811.1:p.Lys358_Ile359insTer nonsense NM_001407884.1:c.1075del NP_001394813.1:p.Lys358_Ile359insTer nonsense NM_001407885.1:c.1075del NP_001394814.1:p.Lys358_Ile359insTer nonsense NM_001407886.1:c.1075del NP_001394815.1:p.Lys358_Ile359insTer nonsense NM_001407887.1:c.1075del NP_001394816.1:p.Lys358_Ile359insTer nonsense NM_001407889.1:c.1075del NP_001394818.1:p.Lys358_Ile359insTer nonsense NM_001407894.1:c.1072del NP_001394823.1:p.Lys357_Ile358insTer nonsense NM_001407895.1:c.1072del NP_001394824.1:p.Lys357_Ile358insTer nonsense NM_001407896.1:c.1072del NP_001394825.1:p.Lys357_Ile358insTer nonsense NM_001407897.1:c.1072del NP_001394826.1:p.Lys357_Ile358insTer nonsense NM_001407898.1:c.1072del NP_001394827.1:p.Lys357_Ile358insTer nonsense NM_001407899.1:c.1072del NP_001394828.1:p.Lys357_Ile358insTer nonsense NM_001407900.1:c.1075del NP_001394829.1:p.Lys358_Ile359insTer nonsense NM_001407902.1:c.1075del NP_001394831.1:p.Lys358_Ile359insTer nonsense NM_001407904.1:c.1075del NP_001394833.1:p.Lys358_Ile359insTer nonsense NM_001407906.1:c.1075del NP_001394835.1:p.Lys358_Ile359insTer nonsense NM_001407907.1:c.1075del NP_001394836.1:p.Lys358_Ile359insTer nonsense NM_001407908.1:c.1075del NP_001394837.1:p.Lys358_Ile359insTer nonsense NM_001407909.1:c.1075del NP_001394838.1:p.Lys358_Ile359insTer nonsense NM_001407910.1:c.1075del NP_001394839.1:p.Lys358_Ile359insTer nonsense NM_001407915.1:c.1072del NP_001394844.1:p.Lys357_Ile358insTer nonsense NM_001407916.1:c.1072del NP_001394845.1:p.Lys357_Ile358insTer nonsense NM_001407917.1:c.1072del NP_001394846.1:p.Lys357_Ile358insTer nonsense NM_001407918.1:c.1072del NP_001394847.1:p.Lys357_Ile358insTer nonsense NM_001407919.1:c.1162del NP_001394848.1:p.Lys387_Ile388insTer nonsense NM_001407920.1:c.1021del NP_001394849.1:p.Lys340_Ile341insTer nonsense NM_001407921.1:c.1021del NP_001394850.1:p.Lys340_Ile341insTer nonsense NM_001407922.1:c.1021del NP_001394851.1:p.Lys340_Ile341insTer nonsense NM_001407923.1:c.1021del NP_001394852.1:p.Lys340_Ile341insTer nonsense NM_001407924.1:c.1021del NP_001394853.1:p.Lys340_Ile341insTer nonsense NM_001407925.1:c.1021del NP_001394854.1:p.Lys340_Ile341insTer nonsense NM_001407926.1:c.1021del NP_001394855.1:p.Lys340_Ile341insTer nonsense NM_001407927.1:c.1021del NP_001394856.1:p.Lys340_Ile341insTer nonsense NM_001407928.1:c.1021del NP_001394857.1:p.Lys340_Ile341insTer nonsense NM_001407929.1:c.1021del NP_001394858.1:p.Lys340_Ile341insTer nonsense NM_001407930.1:c.1018del NP_001394859.1:p.Lys339_Ile340insTer nonsense NM_001407931.1:c.1018del NP_001394860.1:p.Lys339_Ile340insTer nonsense NM_001407932.1:c.1018del NP_001394861.1:p.Lys339_Ile340insTer nonsense NM_001407933.1:c.1021del NP_001394862.1:p.Lys340_Ile341insTer nonsense NM_001407934.1:c.1018del NP_001394863.1:p.Lys339_Ile340insTer nonsense NM_001407935.1:c.1021del NP_001394864.1:p.Lys340_Ile341insTer nonsense NM_001407936.1:c.1018del NP_001394865.1:p.Lys339_Ile340insTer nonsense NM_001407937.1:c.1162del NP_001394866.1:p.Lys387_Ile388insTer nonsense NM_001407938.1:c.1162del NP_001394867.1:p.Lys387_Ile388insTer nonsense NM_001407939.1:c.1162del NP_001394868.1:p.Lys387_Ile388insTer nonsense NM_001407940.1:c.1159del NP_001394869.1:p.Lys386_Ile387insTer nonsense NM_001407941.1:c.1159del NP_001394870.1:p.Lys386_Ile387insTer nonsense NM_001407942.1:c.1144del NP_001394871.1:p.Lys381_Ile382insTer nonsense NM_001407943.1:c.1141del NP_001394872.1:p.Lys380_Ile381insTer nonsense NM_001407944.1:c.1144del NP_001394873.1:p.Lys381_Ile382insTer nonsense NM_001407945.1:c.1144del NP_001394874.1:p.Lys381_Ile382insTer nonsense NM_001407946.1:c.952del NP_001394875.1:p.Lys317_Ile318insTer nonsense NM_001407947.1:c.952del NP_001394876.1:p.Lys317_Ile318insTer nonsense NM_001407948.1:c.952del NP_001394877.1:p.Lys317_Ile318insTer nonsense NM_001407949.1:c.952del NP_001394878.1:p.Lys317_Ile318insTer nonsense NM_001407950.1:c.952del NP_001394879.1:p.Lys317_Ile318insTer nonsense NM_001407951.1:c.952del NP_001394880.1:p.Lys317_Ile318insTer nonsense NM_001407952.1:c.952del NP_001394881.1:p.Lys317_Ile318insTer nonsense NM_001407953.1:c.952del NP_001394882.1:p.Lys317_Ile318insTer nonsense NM_001407954.1:c.949del NP_001394883.1:p.Lys316_Ile317insTer nonsense NM_001407955.1:c.949del NP_001394884.1:p.Lys316_Ile317insTer nonsense NM_001407956.1:c.949del NP_001394885.1:p.Lys316_Ile317insTer nonsense NM_001407957.1:c.952del NP_001394886.1:p.Lys317_Ile318insTer nonsense NM_001407958.1:c.949del NP_001394887.1:p.Lys316_Ile317insTer nonsense NM_001407959.1:c.904del NP_001394888.1:p.Lys301_Ile302insTer nonsense NM_001407960.1:c.904del NP_001394889.1:p.Lys301_Ile302insTer nonsense NM_001407962.1:c.901del NP_001394891.1:p.Lys300_Ile301insTer nonsense NM_001407963.1:c.904del NP_001394892.1:p.Lys301_Ile302insTer nonsense NM_001407964.1:c.1141del NP_001394893.1:p.Lys380_Ile381insTer nonsense NM_001407965.1:c.781del NP_001394894.1:p.Lys260_Ile261insTer nonsense NM_001407966.1:c.397del NP_001394895.1:p.Lys132_Ile133insTer nonsense NM_001407967.1:c.397del NP_001394896.1:p.Lys132_Ile133insTer nonsense NM_001407968.1:c.787+498del intron variant NM_001407969.1:c.787+498del intron variant NM_001407970.1:c.787+498del intron variant NM_001407971.1:c.787+498del intron variant NM_001407972.1:c.784+498del intron variant NM_001407973.1:c.787+498del intron variant NM_001407974.1:c.787+498del intron variant NM_001407975.1:c.787+498del intron variant NM_001407976.1:c.787+498del intron variant NM_001407977.1:c.787+498del intron variant NM_001407978.1:c.787+498del intron variant NM_001407979.1:c.787+498del intron variant NM_001407980.1:c.787+498del intron variant NM_001407981.1:c.787+498del intron variant NM_001407982.1:c.787+498del intron variant NM_001407983.1:c.787+498del intron variant NM_001407984.1:c.784+498del intron variant NM_001407985.1:c.784+498del intron variant NM_001407986.1:c.784+498del intron variant NM_001407990.1:c.787+498del intron variant NM_001407991.1:c.784+498del intron variant NM_001407992.1:c.784+498del intron variant NM_001407993.1:c.787+498del intron variant NM_001408392.1:c.784+498del intron variant NM_001408396.1:c.784+498del intron variant NM_001408397.1:c.784+498del intron variant NM_001408398.1:c.784+498del intron variant NM_001408399.1:c.784+498del intron variant NM_001408400.1:c.784+498del intron variant NM_001408401.1:c.784+498del intron variant NM_001408402.1:c.784+498del intron variant NM_001408403.1:c.787+498del intron variant NM_001408404.1:c.787+498del intron variant NM_001408406.1:c.790+495del intron variant NM_001408407.1:c.784+498del intron variant NM_001408408.1:c.778+498del intron variant NM_001408409.1:c.709+498del intron variant NM_001408410.1:c.646+498del intron variant NM_001408411.1:c.709+498del intron variant NM_001408412.1:c.709+498del intron variant NM_001408413.1:c.706+498del intron variant NM_001408414.1:c.709+498del intron variant NM_001408415.1:c.709+498del intron variant NM_001408416.1:c.706+498del intron variant NM_001408418.1:c.670+1600del intron variant NM_001408419.1:c.670+1600del intron variant NM_001408420.1:c.670+1600del intron variant NM_001408421.1:c.667+1600del intron variant NM_001408422.1:c.670+1600del intron variant NM_001408423.1:c.670+1600del intron variant NM_001408424.1:c.667+1600del intron variant NM_001408425.1:c.664+498del intron variant NM_001408426.1:c.664+498del intron variant NM_001408427.1:c.664+498del intron variant NM_001408428.1:c.664+498del intron variant NM_001408429.1:c.664+498del intron variant NM_001408430.1:c.664+498del intron variant NM_001408431.1:c.667+1600del intron variant NM_001408432.1:c.661+498del intron variant NM_001408433.1:c.661+498del intron variant NM_001408434.1:c.661+498del intron variant NM_001408435.1:c.661+498del intron variant NM_001408436.1:c.664+498del intron variant NM_001408437.1:c.664+498del intron variant NM_001408438.1:c.664+498del intron variant NM_001408439.1:c.664+498del intron variant NM_001408440.1:c.664+498del intron variant NM_001408441.1:c.664+498del intron variant NM_001408442.1:c.664+498del intron variant NM_001408443.1:c.664+498del intron variant NM_001408444.1:c.664+498del intron variant NM_001408445.1:c.661+498del intron variant NM_001408446.1:c.661+498del intron variant NM_001408447.1:c.661+498del intron variant NM_001408448.1:c.661+498del intron variant NM_001408450.1:c.661+498del intron variant NM_001408451.1:c.652+498del intron variant NM_001408452.1:c.646+498del intron variant NM_001408453.1:c.646+498del intron variant NM_001408454.1:c.646+498del intron variant NM_001408455.1:c.646+498del intron variant NM_001408456.1:c.646+498del intron variant NM_001408457.1:c.646+498del intron variant NM_001408458.1:c.646+498del intron variant NM_001408459.1:c.646+498del intron variant NM_001408460.1:c.646+498del intron variant NM_001408461.1:c.646+498del intron variant NM_001408462.1:c.643+498del intron variant NM_001408463.1:c.643+498del intron variant NM_001408464.1:c.643+498del intron variant NM_001408465.1:c.643+498del intron variant NM_001408466.1:c.646+498del intron variant NM_001408467.1:c.646+498del intron variant NM_001408468.1:c.643+498del intron variant NM_001408469.1:c.646+498del intron variant NM_001408470.1:c.643+498del intron variant NM_001408472.1:c.787+498del intron variant NM_001408473.1:c.784+498del intron variant NM_001408474.1:c.586+498del intron variant NM_001408475.1:c.583+498del intron variant NM_001408476.1:c.586+498del intron variant NM_001408478.1:c.577+498del intron variant NM_001408479.1:c.577+498del intron variant NM_001408480.1:c.577+498del intron variant NM_001408481.1:c.577+498del intron variant NM_001408482.1:c.577+498del intron variant NM_001408483.1:c.577+498del intron variant NM_001408484.1:c.577+498del intron variant NM_001408485.1:c.577+498del intron variant NM_001408489.1:c.577+498del intron variant NM_001408490.1:c.574+498del intron variant NM_001408491.1:c.574+498del intron variant NM_001408492.1:c.577+498del intron variant NM_001408493.1:c.574+498del intron variant NM_001408494.1:c.548-3214del intron variant NM_001408495.1:c.545-3214del intron variant NM_001408496.1:c.523+498del intron variant NM_001408497.1:c.523+498del intron variant NM_001408498.1:c.523+498del intron variant NM_001408499.1:c.523+498del intron variant NM_001408500.1:c.523+498del intron variant NM_001408501.1:c.523+498del intron variant NM_001408502.1:c.454+498del intron variant NM_001408503.1:c.520+498del intron variant NM_001408504.1:c.520+498del intron variant NM_001408505.1:c.520+498del intron variant NM_001408506.1:c.460+1600del intron variant NM_001408507.1:c.460+1600del intron variant NM_001408508.1:c.451+498del intron variant NM_001408509.1:c.451+498del intron variant NM_001408510.1:c.406+498del intron variant NM_001408511.1:c.404-3214del intron variant NM_001408512.1:c.283+498del intron variant NM_001408513.1:c.577+498del intron variant NM_001408514.1:c.577+498del intron variant NM_007294.3:c.1282delA NP_009225.1:p.Ile429Terfs frameshift nonsense NM_007294.3:c.1285delA frameshift nonsense NM_007297.4:c.1144del NP_009228.2:p.Lys381_Ile382insTer nonsense NM_007298.4:c.787+498del intron variant NM_007299.4:c.787+498del intron variant NM_007300.4:c.1285del NP_009231.2:p.Lys428_Ile429insTer nonsense NR_027676.1:n.1418delA NC_000017.11:g.43094249del NC_000017.10:g.41246266del NG_005905.2:g.123738del LRG_292:g.123738del LRG_292t1:c.1285del - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094245:TTTT:TTT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12879 | 14664 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Mar 3, 2022 | RCV000703257.8 |
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
(Mar 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000832151.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic. … (more)
This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 579869). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile429*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
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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
HelpTitle | Author | Journal | Year | Link |
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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs1567800172 ...
HelpRecord last updated Feb 14, 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.