ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4127del (p.Thr1376fs)
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.4127del (p.Thr1376fs)
Variation ID: 266449 Accession: VCV000266449.6
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091002 (GRCh38) [ NCBI UCSC ] 17: 41243019 (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 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4127del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1376fs frameshift NM_001407571.1:c.3914delC NP_001394500.1:p.Thr1305Lysfs frameshift NM_001407581.1:c.4127delC NP_001394510.1:p.Thr1376Lysfs frameshift NM_001407582.1:c.4127delC NP_001394511.1:p.Thr1376Lysfs frameshift NM_001407583.1:c.4127delC NP_001394512.1:p.Thr1376Lysfs frameshift NM_001407585.1:c.4127delC NP_001394514.1:p.Thr1376Lysfs frameshift NM_001407587.1:c.4124delC NP_001394516.1:p.Thr1375Lysfs frameshift NM_001407590.1:c.4124delC NP_001394519.1:p.Thr1375Lysfs frameshift NM_001407591.1:c.4124delC NP_001394520.1:p.Thr1375Lysfs frameshift NM_001407593.1:c.4127delC NP_001394522.1:p.Thr1376Lysfs frameshift NM_001407594.1:c.4127delC NP_001394523.1:p.Thr1376Lysfs frameshift NM_001407596.1:c.4127delC NP_001394525.1:p.Thr1376Lysfs frameshift NM_001407597.1:c.4127delC NP_001394526.1:p.Thr1376Lysfs frameshift NM_001407598.1:c.4127delC NP_001394527.1:p.Thr1376Lysfs frameshift NM_001407602.1:c.4127delC NP_001394531.1:p.Thr1376Lysfs frameshift NM_001407603.1:c.4127delC NP_001394532.1:p.Thr1376Lysfs frameshift NM_001407605.1:c.4127delC NP_001394534.1:p.Thr1376Lysfs frameshift NM_001407610.1:c.4124delC NP_001394539.1:p.Thr1375Lysfs frameshift NM_001407611.1:c.4124delC NP_001394540.1:p.Thr1375Lysfs frameshift NM_001407612.1:c.4124delC NP_001394541.1:p.Thr1375Lysfs frameshift NM_001407613.1:c.4124delC NP_001394542.1:p.Thr1375Lysfs frameshift NM_001407614.1:c.4124delC NP_001394543.1:p.Thr1375Lysfs frameshift NM_001407615.1:c.4124delC NP_001394544.1:p.Thr1375Lysfs frameshift NM_001407616.1:c.4127delC NP_001394545.1:p.Thr1376Lysfs frameshift NM_001407617.1:c.4127delC NP_001394546.1:p.Thr1376Lysfs frameshift NM_001407618.1:c.4127delC NP_001394547.1:p.Thr1376Lysfs frameshift NM_001407619.1:c.4127delC NP_001394548.1:p.Thr1376Lysfs frameshift NM_001407620.1:c.4127delC NP_001394549.1:p.Thr1376Lysfs frameshift NM_001407621.1:c.4127delC NP_001394550.1:p.Thr1376Lysfs frameshift NM_001407622.1:c.4127delC NP_001394551.1:p.Thr1376Lysfs frameshift NM_001407623.1:c.4127delC NP_001394552.1:p.Thr1376Lysfs frameshift NM_001407624.1:c.4127delC NP_001394553.1:p.Thr1376Lysfs frameshift NM_001407625.1:c.4127delC NP_001394554.1:p.Thr1376Lysfs frameshift NM_001407626.1:c.4127delC NP_001394555.1:p.Thr1376Lysfs frameshift NM_001407627.1:c.4124delC NP_001394556.1:p.Thr1375Lysfs frameshift NM_001407628.1:c.4124delC NP_001394557.1:p.Thr1375Lysfs frameshift NM_001407629.1:c.4124delC NP_001394558.1:p.Thr1375Lysfs frameshift NM_001407630.1:c.4124delC NP_001394559.1:p.Thr1375Lysfs frameshift NM_001407631.1:c.4124delC NP_001394560.1:p.Thr1375Lysfs frameshift NM_001407632.1:c.4124delC NP_001394561.1:p.Thr1375Lysfs frameshift NM_001407633.1:c.4124delC NP_001394562.1:p.Thr1375Lysfs frameshift NM_001407634.1:c.4124delC NP_001394563.1:p.Thr1375Lysfs frameshift NM_001407635.1:c.4124delC NP_001394564.1:p.Thr1375Lysfs frameshift NM_001407636.1:c.4124delC NP_001394565.1:p.Thr1375Lysfs frameshift NM_001407637.1:c.4124delC NP_001394566.1:p.Thr1375Lysfs frameshift NM_001407638.1:c.4124delC NP_001394567.1:p.Thr1375Lysfs frameshift NM_001407639.1:c.4127delC NP_001394568.1:p.Thr1376Lysfs frameshift NM_001407640.1:c.4127delC NP_001394569.1:p.Thr1376Lysfs frameshift NM_001407641.1:c.4127delC NP_001394570.1:p.Thr1376Lysfs frameshift NM_001407642.1:c.4127delC NP_001394571.1:p.Thr1376Lysfs frameshift NM_001407644.1:c.4124delC NP_001394573.1:p.Thr1375Lysfs frameshift NM_001407645.1:c.4124delC NP_001394574.1:p.Thr1375Lysfs frameshift NM_001407646.1:c.4118delC NP_001394575.1:p.Thr1373Lysfs frameshift NM_001407647.1:c.4118delC NP_001394576.1:p.Thr1373Lysfs frameshift NM_001407648.1:c.4004delC NP_001394577.1:p.Thr1335Lysfs frameshift NM_001407649.1:c.4001delC NP_001394578.1:p.Thr1334Lysfs frameshift NM_001407652.1:c.4127delC NP_001394581.1:p.Thr1376Lysfs frameshift NM_001407653.1:c.4049delC NP_001394582.1:p.Thr1350Lysfs frameshift NM_001407654.1:c.4049delC NP_001394583.1:p.Thr1350Lysfs frameshift NM_001407655.1:c.4049delC NP_001394584.1:p.Thr1350Lysfs frameshift NM_001407656.1:c.4049delC NP_001394585.1:p.Thr1350Lysfs frameshift NM_001407657.1:c.4049delC NP_001394586.1:p.Thr1350Lysfs frameshift NM_001407658.1:c.4049delC NP_001394587.1:p.Thr1350Lysfs frameshift NM_001407659.1:c.4046delC NP_001394588.1:p.Thr1349Lysfs frameshift NM_001407660.1:c.4046delC NP_001394589.1:p.Thr1349Lysfs frameshift NM_001407661.1:c.4046delC NP_001394590.1:p.Thr1349Lysfs frameshift NM_001407662.1:c.4046delC NP_001394591.1:p.Thr1349Lysfs frameshift NM_001407663.1:c.4049delC NP_001394592.1:p.Thr1350Lysfs frameshift NM_001407664.1:c.4004delC NP_001394593.1:p.Thr1335Lysfs frameshift NM_001407665.1:c.4004delC NP_001394594.1:p.Thr1335Lysfs frameshift NM_001407666.1:c.4004delC NP_001394595.1:p.Thr1335Lysfs frameshift NM_001407667.1:c.4004delC NP_001394596.1:p.Thr1335Lysfs frameshift NM_001407668.1:c.4004delC NP_001394597.1:p.Thr1335Lysfs frameshift NM_001407669.1:c.4004delC NP_001394598.1:p.Thr1335Lysfs frameshift NM_001407670.1:c.4001delC NP_001394599.1:p.Thr1334Lysfs frameshift NM_001407671.1:c.4001delC NP_001394600.1:p.Thr1334Lysfs frameshift NM_001407672.1:c.4001delC NP_001394601.1:p.Thr1334Lysfs frameshift NM_001407673.1:c.4001delC NP_001394602.1:p.Thr1334Lysfs frameshift NM_001407674.1:c.4004delC NP_001394603.1:p.Thr1335Lysfs frameshift NM_001407675.1:c.4004delC NP_001394604.1:p.Thr1335Lysfs frameshift NM_001407676.1:c.4004delC NP_001394605.1:p.Thr1335Lysfs frameshift NM_001407677.1:c.4004delC NP_001394606.1:p.Thr1335Lysfs frameshift NM_001407678.1:c.4004delC NP_001394607.1:p.Thr1335Lysfs frameshift NM_001407679.1:c.4004delC NP_001394608.1:p.Thr1335Lysfs frameshift NM_001407680.1:c.4004delC NP_001394609.1:p.Thr1335Lysfs frameshift NM_001407681.1:c.4004delC NP_001394610.1:p.Thr1335Lysfs frameshift NM_001407682.1:c.4004delC NP_001394611.1:p.Thr1335Lysfs frameshift NM_001407683.1:c.4004delC NP_001394612.1:p.Thr1335Lysfs frameshift NM_001407684.1:c.4127delC NP_001394613.1:p.Thr1376Lysfs frameshift NM_001407685.1:c.4001delC NP_001394614.1:p.Thr1334Lysfs frameshift NM_001407686.1:c.4001delC NP_001394615.1:p.Thr1334Lysfs frameshift NM_001407687.1:c.4001delC NP_001394616.1:p.Thr1334Lysfs frameshift NM_001407688.1:c.4001delC NP_001394617.1:p.Thr1334Lysfs frameshift NM_001407689.1:c.4001delC NP_001394618.1:p.Thr1334Lysfs frameshift NM_001407690.1:c.4001delC NP_001394619.1:p.Thr1334Lysfs frameshift NM_001407691.1:c.4001delC NP_001394620.1:p.Thr1334Lysfs frameshift NM_001407692.1:c.3986delC NP_001394621.1:p.Thr1329Lysfs frameshift NM_001407694.1:c.3986delC NP_001394623.1:p.Thr1329Lysfs frameshift NM_001407695.1:c.3986delC NP_001394624.1:p.Thr1329Lysfs frameshift NM_001407696.1:c.3986delC NP_001394625.1:p.Thr1329Lysfs frameshift NM_001407697.1:c.3986delC NP_001394626.1:p.Thr1329Lysfs frameshift NM_001407698.1:c.3986delC NP_001394627.1:p.Thr1329Lysfs frameshift NM_001407724.1:c.3986delC NP_001394653.1:p.Thr1329Lysfs frameshift NM_001407725.1:c.3986delC NP_001394654.1:p.Thr1329Lysfs frameshift NM_001407726.1:c.3986delC NP_001394655.1:p.Thr1329Lysfs frameshift NM_001407727.1:c.3986delC NP_001394656.1:p.Thr1329Lysfs frameshift NM_001407728.1:c.3986delC NP_001394657.1:p.Thr1329Lysfs frameshift NM_001407729.1:c.3986delC NP_001394658.1:p.Thr1329Lysfs frameshift NM_001407730.1:c.3986delC NP_001394659.1:p.Thr1329Lysfs frameshift NM_001407731.1:c.3986delC NP_001394660.1:p.Thr1329Lysfs frameshift NM_001407732.1:c.3986delC NP_001394661.1:p.Thr1329Lysfs frameshift NM_001407733.1:c.3986delC NP_001394662.1:p.Thr1329Lysfs frameshift NM_001407734.1:c.3986delC NP_001394663.1:p.Thr1329Lysfs frameshift NM_001407735.1:c.3986delC NP_001394664.1:p.Thr1329Lysfs frameshift NM_001407736.1:c.3986delC NP_001394665.1:p.Thr1329Lysfs frameshift NM_001407737.1:c.3986delC NP_001394666.1:p.Thr1329Lysfs frameshift NM_001407738.1:c.3986delC NP_001394667.1:p.Thr1329Lysfs frameshift NM_001407739.1:c.3986delC NP_001394668.1:p.Thr1329Lysfs frameshift NM_001407740.1:c.3983delC NP_001394669.1:p.Thr1328Lysfs frameshift NM_001407741.1:c.3983delC NP_001394670.1:p.Thr1328Lysfs frameshift NM_001407742.1:c.3983delC NP_001394671.1:p.Thr1328Lysfs frameshift NM_001407743.1:c.3983delC NP_001394672.1:p.Thr1328Lysfs frameshift NM_001407744.1:c.3983delC NP_001394673.1:p.Thr1328Lysfs frameshift NM_001407745.1:c.3983delC NP_001394674.1:p.Thr1328Lysfs frameshift NM_001407746.1:c.3983delC NP_001394675.1:p.Thr1328Lysfs frameshift NM_001407747.1:c.3983delC NP_001394676.1:p.Thr1328Lysfs frameshift NM_001407748.1:c.3983delC NP_001394677.1:p.Thr1328Lysfs frameshift NM_001407749.1:c.3983delC NP_001394678.1:p.Thr1328Lysfs frameshift NM_001407750.1:c.3986delC NP_001394679.1:p.Thr1329Lysfs frameshift NM_001407751.1:c.3986delC NP_001394680.1:p.Thr1329Lysfs frameshift NM_001407752.1:c.3986delC NP_001394681.1:p.Thr1329Lysfs frameshift NM_001407838.1:c.3983delC NP_001394767.1:p.Thr1328Lysfs frameshift NM_001407839.1:c.3983delC NP_001394768.1:p.Thr1328Lysfs frameshift NM_001407841.1:c.3983delC NP_001394770.1:p.Thr1328Lysfs frameshift NM_001407842.1:c.3983delC NP_001394771.1:p.Thr1328Lysfs frameshift NM_001407843.1:c.3983delC NP_001394772.1:p.Thr1328Lysfs frameshift NM_001407844.1:c.3983delC NP_001394773.1:p.Thr1328Lysfs frameshift NM_001407845.1:c.3983delC NP_001394774.1:p.Thr1328Lysfs frameshift NM_001407846.1:c.3983delC NP_001394775.1:p.Thr1328Lysfs frameshift NM_001407847.1:c.3983delC NP_001394776.1:p.Thr1328Lysfs frameshift NM_001407848.1:c.3983delC NP_001394777.1:p.Thr1328Lysfs frameshift NM_001407849.1:c.3983delC NP_001394778.1:p.Thr1328Lysfs frameshift NM_001407850.1:c.3986delC NP_001394779.1:p.Thr1329Lysfs frameshift NM_001407851.1:c.3986delC NP_001394780.1:p.Thr1329Lysfs frameshift NM_001407852.1:c.3986delC NP_001394781.1:p.Thr1329Lysfs frameshift NM_001407853.1:c.3914delC NP_001394782.1:p.Thr1305Lysfs frameshift NM_001407854.1:c.4127delC NP_001394783.1:p.Thr1376Lysfs frameshift NM_001407858.1:c.4127delC NP_001394787.1:p.Thr1376Lysfs frameshift NM_001407859.1:c.4127delC NP_001394788.1:p.Thr1376Lysfs frameshift NM_001407860.1:c.4124delC NP_001394789.1:p.Thr1375Lysfs frameshift NM_001407861.1:c.4124delC NP_001394790.1:p.Thr1375Lysfs frameshift NM_001407862.1:c.3926delC NP_001394791.1:p.Thr1309Lysfs frameshift NM_001407863.1:c.4004delC NP_001394792.1:p.Thr1335Lysfs frameshift NM_001407874.1:c.3923delC NP_001394803.1:p.Thr1308Lysfs frameshift NM_001407875.1:c.3923delC NP_001394804.1:p.Thr1308Lysfs frameshift NM_001407879.1:c.3917delC NP_001394808.1:p.Thr1306Lysfs frameshift NM_001407881.1:c.3917delC NP_001394810.1:p.Thr1306Lysfs frameshift NM_001407882.1:c.3917delC NP_001394811.1:p.Thr1306Lysfs frameshift NM_001407884.1:c.3917delC NP_001394813.1:p.Thr1306Lysfs frameshift NM_001407885.1:c.3917delC NP_001394814.1:p.Thr1306Lysfs frameshift NM_001407886.1:c.3917delC NP_001394815.1:p.Thr1306Lysfs frameshift NM_001407887.1:c.3917delC NP_001394816.1:p.Thr1306Lysfs frameshift NM_001407889.1:c.3917delC NP_001394818.1:p.Thr1306Lysfs frameshift NM_001407894.1:c.3914delC NP_001394823.1:p.Thr1305Lysfs frameshift NM_001407895.1:c.3914delC NP_001394824.1:p.Thr1305Lysfs frameshift NM_001407896.1:c.3914delC NP_001394825.1:p.Thr1305Lysfs frameshift NM_001407897.1:c.3914delC NP_001394826.1:p.Thr1305Lysfs frameshift NM_001407898.1:c.3914delC NP_001394827.1:p.Thr1305Lysfs frameshift NM_001407899.1:c.3914delC NP_001394828.1:p.Thr1305Lysfs frameshift NM_001407900.1:c.3917delC NP_001394829.1:p.Thr1306Lysfs frameshift NM_001407902.1:c.3917delC NP_001394831.1:p.Thr1306Lysfs frameshift NM_001407904.1:c.3917delC NP_001394833.1:p.Thr1306Lysfs frameshift NM_001407906.1:c.3917delC NP_001394835.1:p.Thr1306Lysfs frameshift NM_001407907.1:c.3917delC NP_001394836.1:p.Thr1306Lysfs frameshift NM_001407908.1:c.3917delC NP_001394837.1:p.Thr1306Lysfs frameshift NM_001407909.1:c.3917delC NP_001394838.1:p.Thr1306Lysfs frameshift NM_001407910.1:c.3917delC NP_001394839.1:p.Thr1306Lysfs frameshift NM_001407915.1:c.3914delC NP_001394844.1:p.Thr1305Lysfs frameshift NM_001407916.1:c.3914delC NP_001394845.1:p.Thr1305Lysfs frameshift NM_001407917.1:c.3914delC NP_001394846.1:p.Thr1305Lysfs frameshift NM_001407918.1:c.3914delC NP_001394847.1:p.Thr1305Lysfs frameshift NM_001407919.1:c.4004delC NP_001394848.1:p.Thr1335Lysfs frameshift NM_001407920.1:c.3863delC NP_001394849.1:p.Thr1288Lysfs frameshift NM_001407921.1:c.3863delC NP_001394850.1:p.Thr1288Lysfs frameshift NM_001407922.1:c.3863delC NP_001394851.1:p.Thr1288Lysfs frameshift NM_001407923.1:c.3863delC NP_001394852.1:p.Thr1288Lysfs frameshift NM_001407924.1:c.3863delC NP_001394853.1:p.Thr1288Lysfs frameshift NM_001407925.1:c.3863delC NP_001394854.1:p.Thr1288Lysfs frameshift NM_001407926.1:c.3863delC NP_001394855.1:p.Thr1288Lysfs frameshift NM_001407927.1:c.3863delC NP_001394856.1:p.Thr1288Lysfs frameshift NM_001407928.1:c.3863delC NP_001394857.1:p.Thr1288Lysfs frameshift NM_001407929.1:c.3863delC NP_001394858.1:p.Thr1288Lysfs frameshift NM_001407930.1:c.3860delC NP_001394859.1:p.Thr1287Lysfs frameshift NM_001407931.1:c.3860delC NP_001394860.1:p.Thr1287Lysfs frameshift NM_001407932.1:c.3860delC NP_001394861.1:p.Thr1287Lysfs frameshift NM_001407933.1:c.3863delC NP_001394862.1:p.Thr1288Lysfs frameshift NM_001407934.1:c.3860delC NP_001394863.1:p.Thr1287Lysfs frameshift NM_001407935.1:c.3863delC NP_001394864.1:p.Thr1288Lysfs frameshift NM_001407936.1:c.3860delC NP_001394865.1:p.Thr1287Lysfs frameshift NM_001407937.1:c.4004delC NP_001394866.1:p.Thr1335Lysfs frameshift NM_001407938.1:c.4004delC NP_001394867.1:p.Thr1335Lysfs frameshift NM_001407939.1:c.4004delC NP_001394868.1:p.Thr1335Lysfs frameshift NM_001407940.1:c.4001delC NP_001394869.1:p.Thr1334Lysfs frameshift NM_001407941.1:c.4001delC NP_001394870.1:p.Thr1334Lysfs frameshift NM_001407942.1:c.3986delC NP_001394871.1:p.Thr1329Lysfs frameshift NM_001407943.1:c.3983delC NP_001394872.1:p.Thr1328Lysfs frameshift NM_001407944.1:c.3986delC NP_001394873.1:p.Thr1329Lysfs frameshift NM_001407945.1:c.3986delC NP_001394874.1:p.Thr1329Lysfs frameshift NM_001407946.1:c.3794delC NP_001394875.1:p.Thr1265Lysfs frameshift NM_001407947.1:c.3794delC NP_001394876.1:p.Thr1265Lysfs frameshift NM_001407948.1:c.3794delC NP_001394877.1:p.Thr1265Lysfs frameshift NM_001407949.1:c.3794delC NP_001394878.1:p.Thr1265Lysfs frameshift NM_001407950.1:c.3794delC NP_001394879.1:p.Thr1265Lysfs frameshift NM_001407951.1:c.3794delC NP_001394880.1:p.Thr1265Lysfs frameshift NM_001407952.1:c.3794delC NP_001394881.1:p.Thr1265Lysfs frameshift NM_001407953.1:c.3794delC NP_001394882.1:p.Thr1265Lysfs frameshift NM_001407954.1:c.3791delC NP_001394883.1:p.Thr1264Lysfs frameshift NM_001407955.1:c.3791delC NP_001394884.1:p.Thr1264Lysfs frameshift NM_001407956.1:c.3791delC NP_001394885.1:p.Thr1264Lysfs frameshift NM_001407957.1:c.3794delC NP_001394886.1:p.Thr1265Lysfs frameshift NM_001407958.1:c.3791delC NP_001394887.1:p.Thr1264Lysfs frameshift NM_001407959.1:c.3746delC NP_001394888.1:p.Thr1249Lysfs frameshift NM_001407960.1:c.3746delC NP_001394889.1:p.Thr1249Lysfs frameshift NM_001407962.1:c.3743delC NP_001394891.1:p.Thr1248Lysfs frameshift NM_001407963.1:c.3746delC NP_001394892.1:p.Thr1249Lysfs frameshift NM_001407964.1:c.3983delC NP_001394893.1:p.Thr1328Lysfs frameshift NM_001407965.1:c.3623delC NP_001394894.1:p.Thr1208Lysfs frameshift NM_001407966.1:c.3239delC NP_001394895.1:p.Thr1080Lysfs frameshift NM_001407967.1:c.3239delC NP_001394896.1:p.Thr1080Lysfs frameshift NM_001407968.1:c.1523delC NP_001394897.1:p.Thr508Lysfs frameshift NM_001407969.1:c.1523delC NP_001394898.1:p.Thr508Lysfs frameshift NM_001407970.1:c.818delC NP_001394899.1:p.Thr273Lysfs frameshift NM_001407971.1:c.818delC NP_001394900.1:p.Thr273Lysfs frameshift NM_001407972.1:c.815delC NP_001394901.1:p.Thr272Lysfs frameshift NM_001407973.1:c.818delC NP_001394902.1:p.Thr273Lysfs frameshift NM_001407974.1:c.818delC NP_001394903.1:p.Thr273Lysfs frameshift NM_001407975.1:c.818delC NP_001394904.1:p.Thr273Lysfs frameshift NM_001407976.1:c.818delC NP_001394905.1:p.Thr273Lysfs frameshift NM_001407977.1:c.818delC NP_001394906.1:p.Thr273Lysfs frameshift NM_001407978.1:c.818delC NP_001394907.1:p.Thr273Lysfs frameshift NM_001407979.1:c.818delC NP_001394908.1:p.Thr273Lysfs frameshift NM_001407980.1:c.818delC NP_001394909.1:p.Thr273Lysfs frameshift NM_001407981.1:c.818delC NP_001394910.1:p.Thr273Lysfs frameshift NM_001407982.1:c.818delC NP_001394911.1:p.Thr273Lysfs frameshift NM_001407983.1:c.818delC NP_001394912.1:p.Thr273Lysfs frameshift NM_001407984.1:c.815delC NP_001394913.1:p.Thr272Lysfs frameshift NM_001407985.1:c.815delC NP_001394914.1:p.Thr272Lysfs frameshift NM_001407986.1:c.815delC NP_001394915.1:p.Thr272Lysfs frameshift NM_001407990.1:c.818delC NP_001394919.1:p.Thr273Lysfs frameshift NM_001407991.1:c.815delC NP_001394920.1:p.Thr272Lysfs frameshift NM_001407992.1:c.815delC NP_001394921.1:p.Thr272Lysfs frameshift NM_001407993.1:c.818delC NP_001394922.1:p.Thr273Lysfs frameshift NM_001408392.1:c.815delC NP_001395321.1:p.Thr272Lysfs frameshift NM_001408396.1:c.815delC NP_001395325.1:p.Thr272Lysfs frameshift NM_001408397.1:c.815delC NP_001395326.1:p.Thr272Lysfs frameshift NM_001408398.1:c.815delC NP_001395327.1:p.Thr272Lysfs frameshift NM_001408399.1:c.815delC NP_001395328.1:p.Thr272Lysfs frameshift NM_001408400.1:c.815delC NP_001395329.1:p.Thr272Lysfs frameshift NM_001408401.1:c.815delC NP_001395330.1:p.Thr272Lysfs frameshift NM_001408402.1:c.815delC NP_001395331.1:p.Thr272Lysfs frameshift NM_001408403.1:c.818delC NP_001395332.1:p.Thr273Lysfs frameshift NM_001408404.1:c.818delC NP_001395333.1:p.Thr273Lysfs frameshift NM_001408406.1:c.812delC NP_001395335.1:p.Thr271Lysfs frameshift NM_001408407.1:c.815delC NP_001395336.1:p.Thr272Lysfs frameshift NM_001408408.1:c.809delC NP_001395337.1:p.Thr270Lysfs frameshift NM_001408409.1:c.740delC NP_001395338.1:p.Thr247Lysfs frameshift NM_001408410.1:c.677delC NP_001395339.1:p.Thr226Lysfs frameshift NM_001408411.1:c.740delC NP_001395340.1:p.Thr247Lysfs frameshift NM_001408412.1:c.740delC NP_001395341.1:p.Thr247Lysfs frameshift NM_001408413.1:c.737delC NP_001395342.1:p.Thr246Lysfs frameshift NM_001408414.1:c.740delC NP_001395343.1:p.Thr247Lysfs frameshift NM_001408415.1:c.740delC NP_001395344.1:p.Thr247Lysfs frameshift NM_001408416.1:c.737delC NP_001395345.1:p.Thr246Lysfs frameshift NM_001408418.1:c.701delC NP_001395347.1:p.Thr234Lysfs frameshift NM_001408419.1:c.701delC NP_001395348.1:p.Thr234Lysfs frameshift NM_001408420.1:c.701delC NP_001395349.1:p.Thr234Lysfs frameshift NM_001408421.1:c.698delC NP_001395350.1:p.Thr233Lysfs frameshift NM_001408422.1:c.701delC NP_001395351.1:p.Thr234Lysfs frameshift NM_001408423.1:c.701delC NP_001395352.1:p.Thr234Lysfs frameshift NM_001408424.1:c.698delC NP_001395353.1:p.Thr233Lysfs frameshift NM_001408425.1:c.695delC NP_001395354.1:p.Thr232Lysfs frameshift NM_001408426.1:c.695delC NP_001395355.1:p.Thr232Lysfs frameshift NM_001408427.1:c.695delC NP_001395356.1:p.Thr232Lysfs frameshift NM_001408428.1:c.695delC NP_001395357.1:p.Thr232Lysfs frameshift NM_001408429.1:c.695delC NP_001395358.1:p.Thr232Lysfs frameshift NM_001408430.1:c.695delC NP_001395359.1:p.Thr232Lysfs frameshift NM_001408431.1:c.698delC NP_001395360.1:p.Thr233Lysfs frameshift NM_001408432.1:c.692delC NP_001395361.1:p.Thr231Lysfs frameshift NM_001408433.1:c.692delC NP_001395362.1:p.Thr231Lysfs frameshift NM_001408434.1:c.692delC NP_001395363.1:p.Thr231Lysfs frameshift NM_001408435.1:c.692delC NP_001395364.1:p.Thr231Lysfs frameshift NM_001408436.1:c.695delC NP_001395365.1:p.Thr232Lysfs frameshift NM_001408437.1:c.695delC NP_001395366.1:p.Thr232Lysfs frameshift NM_001408438.1:c.695delC NP_001395367.1:p.Thr232Lysfs frameshift NM_001408439.1:c.695delC NP_001395368.1:p.Thr232Lysfs frameshift NM_001408440.1:c.695delC NP_001395369.1:p.Thr232Lysfs frameshift NM_001408441.1:c.695delC NP_001395370.1:p.Thr232Lysfs frameshift NM_001408442.1:c.695delC NP_001395371.1:p.Thr232Lysfs frameshift NM_001408443.1:c.695delC NP_001395372.1:p.Thr232Lysfs frameshift NM_001408444.1:c.695delC NP_001395373.1:p.Thr232Lysfs frameshift NM_001408445.1:c.692delC NP_001395374.1:p.Thr231Lysfs frameshift NM_001408446.1:c.692delC NP_001395375.1:p.Thr231Lysfs frameshift NM_001408447.1:c.692delC NP_001395376.1:p.Thr231Lysfs frameshift NM_001408448.1:c.692delC NP_001395377.1:p.Thr231Lysfs frameshift NM_001408450.1:c.692delC NP_001395379.1:p.Thr231Lysfs frameshift NM_001408451.1:c.683delC NP_001395380.1:p.Thr228Lysfs frameshift NM_001408452.1:c.677delC NP_001395381.1:p.Thr226Lysfs frameshift NM_001408453.1:c.677delC NP_001395382.1:p.Thr226Lysfs frameshift NM_001408454.1:c.677delC NP_001395383.1:p.Thr226Lysfs frameshift NM_001408455.1:c.677delC NP_001395384.1:p.Thr226Lysfs frameshift NM_001408456.1:c.677delC NP_001395385.1:p.Thr226Lysfs frameshift NM_001408457.1:c.677delC NP_001395386.1:p.Thr226Lysfs frameshift NM_001408458.1:c.677delC NP_001395387.1:p.Thr226Lysfs frameshift NM_001408459.1:c.677delC NP_001395388.1:p.Thr226Lysfs frameshift NM_001408460.1:c.677delC NP_001395389.1:p.Thr226Lysfs frameshift NM_001408461.1:c.677delC NP_001395390.1:p.Thr226Lysfs frameshift NM_001408462.1:c.674delC NP_001395391.1:p.Thr225Lysfs frameshift NM_001408463.1:c.674delC NP_001395392.1:p.Thr225Lysfs frameshift NM_001408464.1:c.674delC NP_001395393.1:p.Thr225Lysfs frameshift NM_001408465.1:c.674delC NP_001395394.1:p.Thr225Lysfs frameshift NM_001408466.1:c.677delC NP_001395395.1:p.Thr226Lysfs frameshift NM_001408467.1:c.677delC NP_001395396.1:p.Thr226Lysfs frameshift NM_001408468.1:c.674delC NP_001395397.1:p.Thr225Lysfs frameshift NM_001408469.1:c.677delC NP_001395398.1:p.Thr226Lysfs frameshift NM_001408470.1:c.674delC NP_001395399.1:p.Thr225Lysfs frameshift NM_001408472.1:c.818delC NP_001395401.1:p.Thr273Lysfs frameshift NM_001408473.1:c.815delC NP_001395402.1:p.Thr272Lysfs frameshift NM_001408474.1:c.617delC NP_001395403.1:p.Thr206Lysfs frameshift NM_001408475.1:c.614delC NP_001395404.1:p.Thr205Lysfs frameshift NM_001408476.1:c.617delC NP_001395405.1:p.Thr206Lysfs frameshift NM_001408478.1:c.608delC NP_001395407.1:p.Thr203Lysfs frameshift NM_001408479.1:c.608delC NP_001395408.1:p.Thr203Lysfs frameshift NM_001408480.1:c.608delC NP_001395409.1:p.Thr203Lysfs frameshift NM_001408481.1:c.608delC NP_001395410.1:p.Thr203Lysfs frameshift NM_001408482.1:c.608delC NP_001395411.1:p.Thr203Lysfs frameshift NM_001408483.1:c.608delC NP_001395412.1:p.Thr203Lysfs frameshift NM_001408484.1:c.608delC NP_001395413.1:p.Thr203Lysfs frameshift NM_001408485.1:c.608delC NP_001395414.1:p.Thr203Lysfs frameshift NM_001408489.1:c.608delC NP_001395418.1:p.Thr203Lysfs frameshift NM_001408490.1:c.605delC NP_001395419.1:p.Thr202Lysfs frameshift NM_001408491.1:c.605delC NP_001395420.1:p.Thr202Lysfs frameshift NM_001408492.1:c.608delC NP_001395421.1:p.Thr203Lysfs frameshift NM_001408493.1:c.605delC NP_001395422.1:p.Thr202Lysfs frameshift NM_001408494.1:c.578delC NP_001395423.1:p.Thr193Lysfs frameshift NM_001408495.1:c.575delC NP_001395424.1:p.Thr192Lysfs frameshift NM_001408496.1:c.554delC NP_001395425.1:p.Thr185Lysfs frameshift NM_001408497.1:c.554delC NP_001395426.1:p.Thr185Lysfs frameshift NM_001408498.1:c.554delC NP_001395427.1:p.Thr185Lysfs frameshift NM_001408499.1:c.554delC NP_001395428.1:p.Thr185Lysfs frameshift NM_001408500.1:c.554delC NP_001395429.1:p.Thr185Lysfs frameshift NM_001408501.1:c.554delC NP_001395430.1:p.Thr185Lysfs frameshift NM_001408502.1:c.485delC NP_001395431.1:p.Thr162Lysfs frameshift NM_001408503.1:c.551delC NP_001395432.1:p.Thr184Lysfs frameshift NM_001408504.1:c.551delC NP_001395433.1:p.Thr184Lysfs frameshift NM_001408505.1:c.551delC NP_001395434.1:p.Thr184Lysfs frameshift NM_001408506.1:c.491delC NP_001395435.1:p.Thr164Lysfs frameshift NM_001408507.1:c.491delC NP_001395436.1:p.Thr164Lysfs frameshift NM_001408508.1:c.482delC NP_001395437.1:p.Thr161Lysfs frameshift NM_001408509.1:c.482delC NP_001395438.1:p.Thr161Lysfs frameshift NM_001408510.1:c.437delC NP_001395439.1:p.Thr146Lysfs frameshift NM_001408511.1:c.434delC NP_001395440.1:p.Thr145Lysfs frameshift NM_001408512.1:c.314delC NP_001395441.1:p.Thr105Lysfs frameshift NM_001408513.1:c.608delC NP_001395442.1:p.Thr203Lysfs frameshift NM_001408514.1:c.608delC NP_001395443.1:p.Thr203Lysfs frameshift NM_007294.3:c.4127delC NP_009225.1:p.Thr1376Lysfs frameshift NM_007297.4:c.3986del NP_009228.2:p.Thr1329fs frameshift NM_007298.4:c.818delC NP_009229.2:p.Thr273Lysfs frameshift NM_007299.4:c.818del NP_009230.2:p.Thr273fs frameshift NM_007300.4:c.4127del NP_009231.2:p.Thr1376fs frameshift NM_007304.2:c.818delC NP_009235.2:p.Thr273Lysfs frameshift NR_027676.2:n.4304del non-coding transcript variant NC_000017.11:g.43091002del NC_000017.10:g.41243019del NG_005905.2:g.126982del LRG_292:g.126982del LRG_292t1:c.4127del LRG_292p1:p.Thr1376fs - Protein change
- T273fs, T1376fs, T1329fs
- Other names
- 4246delC
- Canonical SPDI
- NC_000017.11:43091001:G:
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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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12752 | 14513 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257422.6 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323728.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325860.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040207 ...
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.