ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3759del (p.Lys1254fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3759del (p.Lys1254fs)
Variation ID: 96915 Accession: VCV000096915.3
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091772 (GRCh38) [ NCBI UCSC ] 17: 41243789 (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 Sep 27, 2014 Sep 24, 2016 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3759del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1254fs frameshift NM_001407571.1:c.3546del NP_001394500.1:p.Lys1183fs frameshift NM_001407581.1:c.3759del NP_001394510.1:p.Lys1254fs frameshift NM_001407582.1:c.3759del NP_001394511.1:p.Lys1254fs frameshift NM_001407583.1:c.3759del NP_001394512.1:p.Lys1254fs frameshift NM_001407585.1:c.3759del NP_001394514.1:p.Lys1254fs frameshift NM_001407587.1:c.3756del NP_001394516.1:p.Lys1253fs frameshift NM_001407590.1:c.3756del NP_001394519.1:p.Lys1253fs frameshift NM_001407591.1:c.3756del NP_001394520.1:p.Lys1253fs frameshift NM_001407593.1:c.3759del NP_001394522.1:p.Lys1254fs frameshift NM_001407594.1:c.3759del NP_001394523.1:p.Lys1254fs frameshift NM_001407596.1:c.3759del NP_001394525.1:p.Lys1254fs frameshift NM_001407597.1:c.3759del NP_001394526.1:p.Lys1254fs frameshift NM_001407598.1:c.3759del NP_001394527.1:p.Lys1254fs frameshift NM_001407602.1:c.3759del NP_001394531.1:p.Lys1254fs frameshift NM_001407603.1:c.3759del NP_001394532.1:p.Lys1254fs frameshift NM_001407605.1:c.3759del NP_001394534.1:p.Lys1254fs frameshift NM_001407610.1:c.3756del NP_001394539.1:p.Lys1253fs frameshift NM_001407611.1:c.3756del NP_001394540.1:p.Lys1253fs frameshift NM_001407612.1:c.3756del NP_001394541.1:p.Lys1253fs frameshift NM_001407613.1:c.3756del NP_001394542.1:p.Lys1253fs frameshift NM_001407614.1:c.3756del NP_001394543.1:p.Lys1253fs frameshift NM_001407615.1:c.3756del NP_001394544.1:p.Lys1253fs frameshift NM_001407616.1:c.3759del NP_001394545.1:p.Lys1254fs frameshift NM_001407617.1:c.3759del NP_001394546.1:p.Lys1254fs frameshift NM_001407618.1:c.3759del NP_001394547.1:p.Lys1254fs frameshift NM_001407619.1:c.3759del NP_001394548.1:p.Lys1254fs frameshift NM_001407620.1:c.3759del NP_001394549.1:p.Lys1254fs frameshift NM_001407621.1:c.3759del NP_001394550.1:p.Lys1254fs frameshift NM_001407622.1:c.3759del NP_001394551.1:p.Lys1254fs frameshift NM_001407623.1:c.3759del NP_001394552.1:p.Lys1254fs frameshift NM_001407624.1:c.3759del NP_001394553.1:p.Lys1254fs frameshift NM_001407625.1:c.3759del NP_001394554.1:p.Lys1254fs frameshift NM_001407626.1:c.3759del NP_001394555.1:p.Lys1254fs frameshift NM_001407627.1:c.3756del NP_001394556.1:p.Lys1253fs frameshift NM_001407628.1:c.3756del NP_001394557.1:p.Lys1253fs frameshift NM_001407629.1:c.3756del NP_001394558.1:p.Lys1253fs frameshift NM_001407630.1:c.3756del NP_001394559.1:p.Lys1253fs frameshift NM_001407631.1:c.3756del NP_001394560.1:p.Lys1253fs frameshift NM_001407632.1:c.3756del NP_001394561.1:p.Lys1253fs frameshift NM_001407633.1:c.3756del NP_001394562.1:p.Lys1253fs frameshift NM_001407634.1:c.3756del NP_001394563.1:p.Lys1253fs frameshift NM_001407635.1:c.3756del NP_001394564.1:p.Lys1253fs frameshift NM_001407636.1:c.3756del NP_001394565.1:p.Lys1253fs frameshift NM_001407637.1:c.3756del NP_001394566.1:p.Lys1253fs frameshift NM_001407638.1:c.3756del NP_001394567.1:p.Lys1253fs frameshift NM_001407639.1:c.3759del NP_001394568.1:p.Lys1254fs frameshift NM_001407640.1:c.3759del NP_001394569.1:p.Lys1254fs frameshift NM_001407641.1:c.3759del NP_001394570.1:p.Lys1254fs frameshift NM_001407642.1:c.3759del NP_001394571.1:p.Lys1254fs frameshift NM_001407644.1:c.3756del NP_001394573.1:p.Lys1253fs frameshift NM_001407645.1:c.3756del NP_001394574.1:p.Lys1253fs frameshift NM_001407646.1:c.3750del NP_001394575.1:p.Lys1251fs frameshift NM_001407647.1:c.3750del NP_001394576.1:p.Lys1251fs frameshift NM_001407648.1:c.3636del NP_001394577.1:p.Lys1213fs frameshift NM_001407649.1:c.3633del NP_001394578.1:p.Lys1212fs frameshift NM_001407652.1:c.3759del NP_001394581.1:p.Lys1254fs frameshift NM_001407653.1:c.3681del NP_001394582.1:p.Lys1228fs frameshift NM_001407654.1:c.3681del NP_001394583.1:p.Lys1228fs frameshift NM_001407655.1:c.3681del NP_001394584.1:p.Lys1228fs frameshift NM_001407656.1:c.3681del NP_001394585.1:p.Lys1228fs frameshift NM_001407657.1:c.3681del NP_001394586.1:p.Lys1228fs frameshift NM_001407658.1:c.3681del NP_001394587.1:p.Lys1228fs frameshift NM_001407659.1:c.3678del NP_001394588.1:p.Lys1227fs frameshift NM_001407660.1:c.3678del NP_001394589.1:p.Lys1227fs frameshift NM_001407661.1:c.3678del NP_001394590.1:p.Lys1227fs frameshift NM_001407662.1:c.3678del NP_001394591.1:p.Lys1227fs frameshift NM_001407663.1:c.3681del NP_001394592.1:p.Lys1228fs frameshift NM_001407664.1:c.3636del NP_001394593.1:p.Lys1213fs frameshift NM_001407665.1:c.3636del NP_001394594.1:p.Lys1213fs frameshift NM_001407666.1:c.3636del NP_001394595.1:p.Lys1213fs frameshift NM_001407667.1:c.3636del NP_001394596.1:p.Lys1213fs frameshift NM_001407668.1:c.3636del NP_001394597.1:p.Lys1213fs frameshift NM_001407669.1:c.3636del NP_001394598.1:p.Lys1213fs frameshift NM_001407670.1:c.3633del NP_001394599.1:p.Lys1212fs frameshift NM_001407671.1:c.3633del NP_001394600.1:p.Lys1212fs frameshift NM_001407672.1:c.3633del NP_001394601.1:p.Lys1212fs frameshift NM_001407673.1:c.3633del NP_001394602.1:p.Lys1212fs frameshift NM_001407674.1:c.3636del NP_001394603.1:p.Lys1213fs frameshift NM_001407675.1:c.3636del NP_001394604.1:p.Lys1213fs frameshift NM_001407676.1:c.3636del NP_001394605.1:p.Lys1213fs frameshift NM_001407677.1:c.3636del NP_001394606.1:p.Lys1213fs frameshift NM_001407678.1:c.3636del NP_001394607.1:p.Lys1213fs frameshift NM_001407679.1:c.3636del NP_001394608.1:p.Lys1213fs frameshift NM_001407680.1:c.3636del NP_001394609.1:p.Lys1213fs frameshift NM_001407681.1:c.3636del NP_001394610.1:p.Lys1213fs frameshift NM_001407682.1:c.3636del NP_001394611.1:p.Lys1213fs frameshift NM_001407683.1:c.3636del NP_001394612.1:p.Lys1213fs frameshift NM_001407684.1:c.3759del NP_001394613.1:p.Lys1254fs frameshift NM_001407685.1:c.3633del NP_001394614.1:p.Lys1212fs frameshift NM_001407686.1:c.3633del NP_001394615.1:p.Lys1212fs frameshift NM_001407687.1:c.3633del NP_001394616.1:p.Lys1212fs frameshift NM_001407688.1:c.3633del NP_001394617.1:p.Lys1212fs frameshift NM_001407689.1:c.3633del NP_001394618.1:p.Lys1212fs frameshift NM_001407690.1:c.3633del NP_001394619.1:p.Lys1212fs frameshift NM_001407691.1:c.3633del NP_001394620.1:p.Lys1212fs frameshift NM_001407692.1:c.3618del NP_001394621.1:p.Lys1207fs frameshift NM_001407694.1:c.3618del NP_001394623.1:p.Lys1207fs frameshift NM_001407695.1:c.3618del NP_001394624.1:p.Lys1207fs frameshift NM_001407696.1:c.3618del NP_001394625.1:p.Lys1207fs frameshift NM_001407697.1:c.3618del NP_001394626.1:p.Lys1207fs frameshift NM_001407698.1:c.3618del NP_001394627.1:p.Lys1207fs frameshift NM_001407724.1:c.3618del NP_001394653.1:p.Lys1207fs frameshift NM_001407725.1:c.3618del NP_001394654.1:p.Lys1207fs frameshift NM_001407726.1:c.3618del NP_001394655.1:p.Lys1207fs frameshift NM_001407727.1:c.3618del NP_001394656.1:p.Lys1207fs frameshift NM_001407728.1:c.3618del NP_001394657.1:p.Lys1207fs frameshift NM_001407729.1:c.3618del NP_001394658.1:p.Lys1207fs frameshift NM_001407730.1:c.3618del NP_001394659.1:p.Lys1207fs frameshift NM_001407731.1:c.3618del NP_001394660.1:p.Lys1207fs frameshift NM_001407732.1:c.3618del NP_001394661.1:p.Lys1207fs frameshift NM_001407733.1:c.3618del NP_001394662.1:p.Lys1207fs frameshift NM_001407734.1:c.3618del NP_001394663.1:p.Lys1207fs frameshift NM_001407735.1:c.3618del NP_001394664.1:p.Lys1207fs frameshift NM_001407736.1:c.3618del NP_001394665.1:p.Lys1207fs frameshift NM_001407737.1:c.3618del NP_001394666.1:p.Lys1207fs frameshift NM_001407738.1:c.3618del NP_001394667.1:p.Lys1207fs frameshift NM_001407739.1:c.3618del NP_001394668.1:p.Lys1207fs frameshift NM_001407740.1:c.3615del NP_001394669.1:p.Lys1206fs frameshift NM_001407741.1:c.3615del NP_001394670.1:p.Lys1206fs frameshift NM_001407742.1:c.3615del NP_001394671.1:p.Lys1206fs frameshift NM_001407743.1:c.3615del NP_001394672.1:p.Lys1206fs frameshift NM_001407744.1:c.3615del NP_001394673.1:p.Lys1206fs frameshift NM_001407745.1:c.3615del NP_001394674.1:p.Lys1206fs frameshift NM_001407746.1:c.3615del NP_001394675.1:p.Lys1206fs frameshift NM_001407747.1:c.3615del NP_001394676.1:p.Lys1206fs frameshift NM_001407748.1:c.3615del NP_001394677.1:p.Lys1206fs frameshift NM_001407749.1:c.3615del NP_001394678.1:p.Lys1206fs frameshift NM_001407750.1:c.3618del NP_001394679.1:p.Lys1207fs frameshift NM_001407751.1:c.3618del NP_001394680.1:p.Lys1207fs frameshift NM_001407752.1:c.3618del NP_001394681.1:p.Lys1207fs frameshift NM_001407838.1:c.3615del NP_001394767.1:p.Lys1206fs frameshift NM_001407839.1:c.3615del NP_001394768.1:p.Lys1206fs frameshift NM_001407841.1:c.3615del NP_001394770.1:p.Lys1206fs frameshift NM_001407842.1:c.3615del NP_001394771.1:p.Lys1206fs frameshift NM_001407843.1:c.3615del NP_001394772.1:p.Lys1206fs frameshift NM_001407844.1:c.3615del NP_001394773.1:p.Lys1206fs frameshift NM_001407845.1:c.3615del NP_001394774.1:p.Lys1206fs frameshift NM_001407846.1:c.3615del NP_001394775.1:p.Lys1206fs frameshift NM_001407847.1:c.3615del NP_001394776.1:p.Lys1206fs frameshift NM_001407848.1:c.3615del NP_001394777.1:p.Lys1206fs frameshift NM_001407849.1:c.3615del NP_001394778.1:p.Lys1206fs frameshift NM_001407850.1:c.3618del NP_001394779.1:p.Lys1207fs frameshift NM_001407851.1:c.3618del NP_001394780.1:p.Lys1207fs frameshift NM_001407852.1:c.3618del NP_001394781.1:p.Lys1207fs frameshift NM_001407853.1:c.3546del NP_001394782.1:p.Lys1183fs frameshift NM_001407854.1:c.3759del NP_001394783.1:p.Lys1254fs frameshift NM_001407858.1:c.3759del NP_001394787.1:p.Lys1254fs frameshift NM_001407859.1:c.3759del NP_001394788.1:p.Lys1254fs frameshift NM_001407860.1:c.3756del NP_001394789.1:p.Lys1253fs frameshift NM_001407861.1:c.3756del NP_001394790.1:p.Lys1253fs frameshift NM_001407862.1:c.3558del NP_001394791.1:p.Lys1187fs frameshift NM_001407863.1:c.3636del NP_001394792.1:p.Lys1213fs frameshift NM_001407874.1:c.3555del NP_001394803.1:p.Lys1186fs frameshift NM_001407875.1:c.3555del NP_001394804.1:p.Lys1186fs frameshift NM_001407879.1:c.3549del NP_001394808.1:p.Lys1184fs frameshift NM_001407881.1:c.3549del NP_001394810.1:p.Lys1184fs frameshift NM_001407882.1:c.3549del NP_001394811.1:p.Lys1184fs frameshift NM_001407884.1:c.3549del NP_001394813.1:p.Lys1184fs frameshift NM_001407885.1:c.3549del NP_001394814.1:p.Lys1184fs frameshift NM_001407886.1:c.3549del NP_001394815.1:p.Lys1184fs frameshift NM_001407887.1:c.3549del NP_001394816.1:p.Lys1184fs frameshift NM_001407889.1:c.3549del NP_001394818.1:p.Lys1184fs frameshift NM_001407894.1:c.3546del NP_001394823.1:p.Lys1183fs frameshift NM_001407895.1:c.3546del NP_001394824.1:p.Lys1183fs frameshift NM_001407896.1:c.3546del NP_001394825.1:p.Lys1183fs frameshift NM_001407897.1:c.3546del NP_001394826.1:p.Lys1183fs frameshift NM_001407898.1:c.3546del NP_001394827.1:p.Lys1183fs frameshift NM_001407899.1:c.3546del NP_001394828.1:p.Lys1183fs frameshift NM_001407900.1:c.3549del NP_001394829.1:p.Lys1184fs frameshift NM_001407902.1:c.3549del NP_001394831.1:p.Lys1184fs frameshift NM_001407904.1:c.3549del NP_001394833.1:p.Lys1184fs frameshift NM_001407906.1:c.3549del NP_001394835.1:p.Lys1184fs frameshift NM_001407907.1:c.3549del NP_001394836.1:p.Lys1184fs frameshift NM_001407908.1:c.3549del NP_001394837.1:p.Lys1184fs frameshift NM_001407909.1:c.3549del NP_001394838.1:p.Lys1184fs frameshift NM_001407910.1:c.3549del NP_001394839.1:p.Lys1184fs frameshift NM_001407915.1:c.3546del NP_001394844.1:p.Lys1183fs frameshift NM_001407916.1:c.3546del NP_001394845.1:p.Lys1183fs frameshift NM_001407917.1:c.3546del NP_001394846.1:p.Lys1183fs frameshift NM_001407918.1:c.3546del NP_001394847.1:p.Lys1183fs frameshift NM_001407919.1:c.3636del NP_001394848.1:p.Lys1213fs frameshift NM_001407920.1:c.3495del NP_001394849.1:p.Lys1166fs frameshift NM_001407921.1:c.3495del NP_001394850.1:p.Lys1166fs frameshift NM_001407922.1:c.3495del NP_001394851.1:p.Lys1166fs frameshift NM_001407923.1:c.3495del NP_001394852.1:p.Lys1166fs frameshift NM_001407924.1:c.3495del NP_001394853.1:p.Lys1166fs frameshift NM_001407925.1:c.3495del NP_001394854.1:p.Lys1166fs frameshift NM_001407926.1:c.3495del NP_001394855.1:p.Lys1166fs frameshift NM_001407927.1:c.3495del NP_001394856.1:p.Lys1166fs frameshift NM_001407928.1:c.3495del NP_001394857.1:p.Lys1166fs frameshift NM_001407929.1:c.3495del NP_001394858.1:p.Lys1166fs frameshift NM_001407930.1:c.3492del NP_001394859.1:p.Lys1165fs frameshift NM_001407931.1:c.3492del NP_001394860.1:p.Lys1165fs frameshift NM_001407932.1:c.3492del NP_001394861.1:p.Lys1165fs frameshift NM_001407933.1:c.3495del NP_001394862.1:p.Lys1166fs frameshift NM_001407934.1:c.3492del NP_001394863.1:p.Lys1165fs frameshift NM_001407935.1:c.3495del NP_001394864.1:p.Lys1166fs frameshift NM_001407936.1:c.3492del NP_001394865.1:p.Lys1165fs frameshift NM_001407937.1:c.3636del NP_001394866.1:p.Lys1213fs frameshift NM_001407938.1:c.3636del NP_001394867.1:p.Lys1213fs frameshift NM_001407939.1:c.3636del NP_001394868.1:p.Lys1213fs frameshift NM_001407940.1:c.3633del NP_001394869.1:p.Lys1212fs frameshift NM_001407941.1:c.3633del NP_001394870.1:p.Lys1212fs frameshift NM_001407942.1:c.3618del NP_001394871.1:p.Lys1207fs frameshift NM_001407943.1:c.3615del NP_001394872.1:p.Lys1206fs frameshift NM_001407944.1:c.3618del NP_001394873.1:p.Lys1207fs frameshift NM_001407945.1:c.3618del NP_001394874.1:p.Lys1207fs frameshift NM_001407946.1:c.3426del NP_001394875.1:p.Lys1143fs frameshift NM_001407947.1:c.3426del NP_001394876.1:p.Lys1143fs frameshift NM_001407948.1:c.3426del NP_001394877.1:p.Lys1143fs frameshift NM_001407949.1:c.3426del NP_001394878.1:p.Lys1143fs frameshift NM_001407950.1:c.3426del NP_001394879.1:p.Lys1143fs frameshift NM_001407951.1:c.3426del NP_001394880.1:p.Lys1143fs frameshift NM_001407952.1:c.3426del NP_001394881.1:p.Lys1143fs frameshift NM_001407953.1:c.3426del NP_001394882.1:p.Lys1143fs frameshift NM_001407954.1:c.3423del NP_001394883.1:p.Lys1142fs frameshift NM_001407955.1:c.3423del NP_001394884.1:p.Lys1142fs frameshift NM_001407956.1:c.3423del NP_001394885.1:p.Lys1142fs frameshift NM_001407957.1:c.3426del NP_001394886.1:p.Lys1143fs frameshift NM_001407958.1:c.3423del NP_001394887.1:p.Lys1142fs frameshift NM_001407959.1:c.3378del NP_001394888.1:p.Lys1127fs frameshift NM_001407960.1:c.3378del NP_001394889.1:p.Lys1127fs frameshift NM_001407962.1:c.3375del NP_001394891.1:p.Lys1126fs frameshift NM_001407963.1:c.3378del NP_001394892.1:p.Lys1127fs frameshift NM_001407964.1:c.3615del NP_001394893.1:p.Lys1206fs frameshift NM_001407965.1:c.3255del NP_001394894.1:p.Lys1086fs frameshift NM_001407966.1:c.2871del NP_001394895.1:p.Lys958fs frameshift NM_001407967.1:c.2871del NP_001394896.1:p.Lys958fs frameshift NM_001407968.1:c.1155del NP_001394897.1:p.Lys386fs frameshift NM_001407969.1:c.1155del NP_001394898.1:p.Lys386fs frameshift NM_001407970.1:c.788-740del intron variant NM_001407971.1:c.788-740del intron variant NM_001407972.1:c.785-740del intron variant NM_001407973.1:c.788-740del intron variant NM_001407974.1:c.788-740del intron variant NM_001407975.1:c.788-740del intron variant NM_001407976.1:c.788-740del intron variant NM_001407977.1:c.788-740del intron variant NM_001407978.1:c.788-740del intron variant NM_001407979.1:c.788-740del intron variant NM_001407980.1:c.788-740del intron variant NM_001407981.1:c.788-740del intron variant NM_001407982.1:c.788-740del intron variant NM_001407983.1:c.788-740del intron variant NM_001407984.1:c.785-740del intron variant NM_001407985.1:c.785-740del intron variant NM_001407986.1:c.785-740del intron variant NM_001407990.1:c.788-740del intron variant NM_001407991.1:c.785-740del intron variant NM_001407992.1:c.785-740del intron variant NM_001407993.1:c.788-740del intron variant NM_001408392.1:c.785-740del intron variant NM_001408396.1:c.785-740del intron variant NM_001408397.1:c.785-740del intron variant NM_001408398.1:c.785-740del intron variant NM_001408399.1:c.785-740del intron variant NM_001408400.1:c.785-740del intron variant NM_001408401.1:c.785-740del intron variant NM_001408402.1:c.785-740del intron variant NM_001408403.1:c.788-740del intron variant NM_001408404.1:c.788-740del intron variant NM_001408406.1:c.791-749del intron variant NM_001408407.1:c.785-740del intron variant NM_001408408.1:c.779-740del intron variant NM_001408409.1:c.710-740del intron variant NM_001408410.1:c.647-740del intron variant NM_001408411.1:c.710-740del intron variant NM_001408412.1:c.710-740del intron variant NM_001408413.1:c.707-740del intron variant NM_001408414.1:c.710-740del intron variant NM_001408415.1:c.710-740del intron variant NM_001408416.1:c.707-740del intron variant NM_001408418.1:c.671-740del intron variant NM_001408419.1:c.671-740del intron variant NM_001408420.1:c.671-740del intron variant NM_001408421.1:c.668-740del intron variant NM_001408422.1:c.671-740del intron variant NM_001408423.1:c.671-740del intron variant NM_001408424.1:c.668-740del intron variant NM_001408425.1:c.665-740del intron variant NM_001408426.1:c.665-740del intron variant NM_001408427.1:c.665-740del intron variant NM_001408428.1:c.665-740del intron variant NM_001408429.1:c.665-740del intron variant NM_001408430.1:c.665-740del intron variant NM_001408431.1:c.668-740del intron variant NM_001408432.1:c.662-740del intron variant NM_001408433.1:c.662-740del intron variant NM_001408434.1:c.662-740del intron variant NM_001408435.1:c.662-740del intron variant NM_001408436.1:c.665-740del intron variant NM_001408437.1:c.665-740del intron variant NM_001408438.1:c.665-740del intron variant NM_001408439.1:c.665-740del intron variant NM_001408440.1:c.665-740del intron variant NM_001408441.1:c.665-740del intron variant NM_001408442.1:c.665-740del intron variant NM_001408443.1:c.665-740del intron variant NM_001408444.1:c.665-740del intron variant NM_001408445.1:c.662-740del intron variant NM_001408446.1:c.662-740del intron variant NM_001408447.1:c.662-740del intron variant NM_001408448.1:c.662-740del intron variant NM_001408450.1:c.662-740del intron variant NM_001408451.1:c.653-740del intron variant NM_001408452.1:c.647-740del intron variant NM_001408453.1:c.647-740del intron variant NM_001408454.1:c.647-740del intron variant NM_001408455.1:c.647-740del intron variant NM_001408456.1:c.647-740del intron variant NM_001408457.1:c.647-740del intron variant NM_001408458.1:c.647-740del intron variant NM_001408459.1:c.647-740del intron variant NM_001408460.1:c.647-740del intron variant NM_001408461.1:c.647-740del intron variant NM_001408462.1:c.644-740del intron variant NM_001408463.1:c.644-740del intron variant NM_001408464.1:c.644-740del intron variant NM_001408465.1:c.644-740del intron variant NM_001408466.1:c.647-740del intron variant NM_001408467.1:c.647-740del intron variant NM_001408468.1:c.644-740del intron variant NM_001408469.1:c.647-740del intron variant NM_001408470.1:c.644-740del intron variant NM_001408472.1:c.788-740del intron variant NM_001408473.1:c.785-740del intron variant NM_001408474.1:c.587-740del intron variant NM_001408475.1:c.584-740del intron variant NM_001408476.1:c.587-740del intron variant NM_001408478.1:c.578-740del intron variant NM_001408479.1:c.578-740del intron variant NM_001408480.1:c.578-740del intron variant NM_001408481.1:c.578-740del intron variant NM_001408482.1:c.578-740del intron variant NM_001408483.1:c.578-740del intron variant NM_001408484.1:c.578-740del intron variant NM_001408485.1:c.578-740del intron variant NM_001408489.1:c.578-740del intron variant NM_001408490.1:c.575-740del intron variant NM_001408491.1:c.575-740del intron variant NM_001408492.1:c.578-740del intron variant NM_001408493.1:c.575-740del intron variant NM_001408494.1:c.548-740del intron variant NM_001408495.1:c.545-740del intron variant NM_001408496.1:c.524-740del intron variant NM_001408497.1:c.524-740del intron variant NM_001408498.1:c.524-740del intron variant NM_001408499.1:c.524-740del intron variant NM_001408500.1:c.524-740del intron variant NM_001408501.1:c.524-740del intron variant NM_001408502.1:c.455-740del intron variant NM_001408503.1:c.521-740del intron variant NM_001408504.1:c.521-740del intron variant NM_001408505.1:c.521-740del intron variant NM_001408506.1:c.461-740del intron variant NM_001408507.1:c.461-740del intron variant NM_001408508.1:c.452-740del intron variant NM_001408509.1:c.452-740del intron variant NM_001408510.1:c.407-740del intron variant NM_001408511.1:c.404-740del intron variant NM_001408512.1:c.284-740del intron variant NM_001408513.1:c.578-740del intron variant NM_001408514.1:c.578-740del intron variant NM_007297.4:c.3618del NP_009228.2:p.Lys1207fs frameshift NM_007298.4:c.788-740del intron variant NM_007299.4:c.788-740del intron variant NM_007300.4:c.3759del NP_009231.2:p.Lys1254fs frameshift NR_027676.1:n.3895delT NC_000017.11:g.43091772del NC_000017.10:g.41243789del NG_005905.2:g.126212del NG_087068.1:g.754del LRG_292:g.126212del LRG_292t1:c.3759del LRG_292p1:p.Lys1254Argfs - Protein change
- K1254fs, K1207fs, K1126fs, K1143fs, K1183fs, K1127fs, K1187fs, K1228fs, K1251fs, K1253fs, K1086fs, K1165fs, K1166fs, K1212fs, K1213fs, K1227fs, K386fs, K958fs, K1142fs, K1184fs, K1186fs, K1206fs
- Other names
- 3878delT
- Canonical SPDI
- NC_000017.11:43091771:A:
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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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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 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
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 (2) |
reviewed by expert panel
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Sep 8, 2016 | RCV000083036.5 |
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
(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: SCV000300005.2
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
(Nov 05, 2008)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000115110.2
First in ClinVar: Feb 09, 2014 Last updated: Sep 27, 2014 |
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs431825398 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.