ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4643del (p.Thr1548fs)
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
-
NM_007294.4(BRCA1):c.4643del (p.Thr1548fs)
Variation ID: 1050839 Accession: VCV001050839.2
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074363 (GRCh38) [ NCBI UCSC ] 17: 41226380 (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 13, 2021 Apr 13, 2021 Mar 21, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4643del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1548fs frameshift NM_001407571.1:c.4430delC NP_001394500.1:p.Thr1477Argfs frameshift NM_001407581.1:c.4709delC NP_001394510.1:p.Thr1570Argfs frameshift NM_001407582.1:c.4709delC NP_001394511.1:p.Thr1570Argfs frameshift NM_001407583.1:c.4706delC NP_001394512.1:p.Thr1569Argfs frameshift NM_001407585.1:c.4706delC NP_001394514.1:p.Thr1569Argfs frameshift NM_001407587.1:c.4706delC NP_001394516.1:p.Thr1569Argfs frameshift NM_001407590.1:c.4703delC NP_001394519.1:p.Thr1568Argfs frameshift NM_001407591.1:c.4703delC NP_001394520.1:p.Thr1568Argfs frameshift NM_001407593.1:c.4643delC NP_001394522.1:p.Thr1548Argfs frameshift NM_001407594.1:c.4643delC NP_001394523.1:p.Thr1548Argfs frameshift NM_001407596.1:c.4643delC NP_001394525.1:p.Thr1548Argfs frameshift NM_001407597.1:c.4643delC NP_001394526.1:p.Thr1548Argfs frameshift NM_001407598.1:c.4643delC NP_001394527.1:p.Thr1548Argfs frameshift NM_001407602.1:c.4643delC NP_001394531.1:p.Thr1548Argfs frameshift NM_001407603.1:c.4643delC NP_001394532.1:p.Thr1548Argfs frameshift NM_001407605.1:c.4643delC NP_001394534.1:p.Thr1548Argfs frameshift NM_001407610.1:c.4640delC NP_001394539.1:p.Thr1547Argfs frameshift NM_001407611.1:c.4640delC NP_001394540.1:p.Thr1547Argfs frameshift NM_001407612.1:c.4640delC NP_001394541.1:p.Thr1547Argfs frameshift NM_001407613.1:c.4640delC NP_001394542.1:p.Thr1547Argfs frameshift NM_001407614.1:c.4640delC NP_001394543.1:p.Thr1547Argfs frameshift NM_001407615.1:c.4640delC NP_001394544.1:p.Thr1547Argfs frameshift NM_001407616.1:c.4640delC NP_001394545.1:p.Thr1547Argfs frameshift NM_001407617.1:c.4640delC NP_001394546.1:p.Thr1547Argfs frameshift NM_001407618.1:c.4640delC NP_001394547.1:p.Thr1547Argfs frameshift NM_001407619.1:c.4640delC NP_001394548.1:p.Thr1547Argfs frameshift NM_001407620.1:c.4640delC NP_001394549.1:p.Thr1547Argfs frameshift NM_001407621.1:c.4640delC NP_001394550.1:p.Thr1547Argfs frameshift NM_001407622.1:c.4640delC NP_001394551.1:p.Thr1547Argfs frameshift NM_001407623.1:c.4640delC NP_001394552.1:p.Thr1547Argfs frameshift NM_001407624.1:c.4640delC NP_001394553.1:p.Thr1547Argfs frameshift NM_001407625.1:c.4640delC NP_001394554.1:p.Thr1547Argfs frameshift NM_001407626.1:c.4640delC NP_001394555.1:p.Thr1547Argfs frameshift NM_001407627.1:c.4637delC NP_001394556.1:p.Thr1546Argfs frameshift NM_001407628.1:c.4637delC NP_001394557.1:p.Thr1546Argfs frameshift NM_001407629.1:c.4637delC NP_001394558.1:p.Thr1546Argfs frameshift NM_001407630.1:c.4637delC NP_001394559.1:p.Thr1546Argfs frameshift NM_001407631.1:c.4637delC NP_001394560.1:p.Thr1546Argfs frameshift NM_001407632.1:c.4637delC NP_001394561.1:p.Thr1546Argfs frameshift NM_001407633.1:c.4637delC NP_001394562.1:p.Thr1546Argfs frameshift NM_001407634.1:c.4637delC NP_001394563.1:p.Thr1546Argfs frameshift NM_001407635.1:c.4637delC NP_001394564.1:p.Thr1546Argfs frameshift NM_001407636.1:c.4637delC NP_001394565.1:p.Thr1546Argfs frameshift NM_001407637.1:c.4637delC NP_001394566.1:p.Thr1546Argfs frameshift NM_001407638.1:c.4637delC NP_001394567.1:p.Thr1546Argfs frameshift NM_001407639.1:c.4637delC NP_001394568.1:p.Thr1546Argfs frameshift NM_001407640.1:c.4637delC NP_001394569.1:p.Thr1546Argfs frameshift NM_001407641.1:c.4637delC NP_001394570.1:p.Thr1546Argfs frameshift NM_001407642.1:c.4637delC NP_001394571.1:p.Thr1546Argfs frameshift NM_001407644.1:c.4634delC NP_001394573.1:p.Thr1545Argfs frameshift NM_001407645.1:c.4634delC NP_001394574.1:p.Thr1545Argfs frameshift NM_001407646.1:c.4631delC NP_001394575.1:p.Thr1544Argfs frameshift NM_001407647.1:c.4628delC NP_001394576.1:p.Thr1543Argfs frameshift NM_001407648.1:c.4586delC NP_001394577.1:p.Thr1529Argfs frameshift NM_001407649.1:c.4583delC NP_001394578.1:p.Thr1528Argfs frameshift NM_001407652.1:c.4643delC NP_001394581.1:p.Thr1548Argfs frameshift NM_001407653.1:c.4565delC NP_001394582.1:p.Thr1522Argfs frameshift NM_001407654.1:c.4565delC NP_001394583.1:p.Thr1522Argfs frameshift NM_001407655.1:c.4565delC NP_001394584.1:p.Thr1522Argfs frameshift NM_001407656.1:c.4562delC NP_001394585.1:p.Thr1521Argfs frameshift NM_001407657.1:c.4562delC NP_001394586.1:p.Thr1521Argfs frameshift NM_001407658.1:c.4562delC NP_001394587.1:p.Thr1521Argfs frameshift NM_001407659.1:c.4559delC NP_001394588.1:p.Thr1520Argfs frameshift NM_001407660.1:c.4559delC NP_001394589.1:p.Thr1520Argfs frameshift NM_001407661.1:c.4559delC NP_001394590.1:p.Thr1520Argfs frameshift NM_001407662.1:c.4559delC NP_001394591.1:p.Thr1520Argfs frameshift NM_001407663.1:c.4559delC NP_001394592.1:p.Thr1520Argfs frameshift NM_001407664.1:c.4520delC NP_001394593.1:p.Thr1507Argfs frameshift NM_001407665.1:c.4520delC NP_001394594.1:p.Thr1507Argfs frameshift NM_001407666.1:c.4520delC NP_001394595.1:p.Thr1507Argfs frameshift NM_001407667.1:c.4520delC NP_001394596.1:p.Thr1507Argfs frameshift NM_001407668.1:c.4520delC NP_001394597.1:p.Thr1507Argfs frameshift NM_001407669.1:c.4520delC NP_001394598.1:p.Thr1507Argfs frameshift NM_001407670.1:c.4517delC NP_001394599.1:p.Thr1506Argfs frameshift NM_001407671.1:c.4517delC NP_001394600.1:p.Thr1506Argfs frameshift NM_001407672.1:c.4517delC NP_001394601.1:p.Thr1506Argfs frameshift NM_001407673.1:c.4517delC NP_001394602.1:p.Thr1506Argfs frameshift NM_001407674.1:c.4517delC NP_001394603.1:p.Thr1506Argfs frameshift NM_001407675.1:c.4517delC NP_001394604.1:p.Thr1506Argfs frameshift NM_001407676.1:c.4517delC NP_001394605.1:p.Thr1506Argfs frameshift NM_001407677.1:c.4517delC NP_001394606.1:p.Thr1506Argfs frameshift NM_001407678.1:c.4517delC NP_001394607.1:p.Thr1506Argfs frameshift NM_001407679.1:c.4517delC NP_001394608.1:p.Thr1506Argfs frameshift NM_001407680.1:c.4517delC NP_001394609.1:p.Thr1506Argfs frameshift NM_001407681.1:c.4514delC NP_001394610.1:p.Thr1505Argfs frameshift NM_001407682.1:c.4514delC NP_001394611.1:p.Thr1505Argfs frameshift NM_001407683.1:c.4514delC NP_001394612.1:p.Thr1505Argfs frameshift NM_001407684.1:c.4643delC NP_001394613.1:p.Thr1548Argfs frameshift NM_001407685.1:c.4514delC NP_001394614.1:p.Thr1505Argfs frameshift NM_001407686.1:c.4514delC NP_001394615.1:p.Thr1505Argfs frameshift NM_001407687.1:c.4514delC NP_001394616.1:p.Thr1505Argfs frameshift NM_001407688.1:c.4514delC NP_001394617.1:p.Thr1505Argfs frameshift NM_001407689.1:c.4514delC NP_001394618.1:p.Thr1505Argfs frameshift NM_001407690.1:c.4511delC NP_001394619.1:p.Thr1504Argfs frameshift NM_001407691.1:c.4511delC NP_001394620.1:p.Thr1504Argfs frameshift NM_001407692.1:c.4502delC NP_001394621.1:p.Thr1501Argfs frameshift NM_001407694.1:c.4502delC NP_001394623.1:p.Thr1501Argfs frameshift NM_001407695.1:c.4502delC NP_001394624.1:p.Thr1501Argfs frameshift NM_001407696.1:c.4502delC NP_001394625.1:p.Thr1501Argfs frameshift NM_001407697.1:c.4502delC NP_001394626.1:p.Thr1501Argfs frameshift NM_001407698.1:c.4502delC NP_001394627.1:p.Thr1501Argfs frameshift NM_001407724.1:c.4502delC NP_001394653.1:p.Thr1501Argfs frameshift NM_001407725.1:c.4502delC NP_001394654.1:p.Thr1501Argfs frameshift NM_001407726.1:c.4502delC NP_001394655.1:p.Thr1501Argfs frameshift NM_001407727.1:c.4502delC NP_001394656.1:p.Thr1501Argfs frameshift NM_001407728.1:c.4502delC NP_001394657.1:p.Thr1501Argfs frameshift NM_001407729.1:c.4502delC NP_001394658.1:p.Thr1501Argfs frameshift NM_001407730.1:c.4502delC NP_001394659.1:p.Thr1501Argfs frameshift NM_001407731.1:c.4502delC NP_001394660.1:p.Thr1501Argfs frameshift NM_001407732.1:c.4499delC NP_001394661.1:p.Thr1500Argfs frameshift NM_001407733.1:c.4499delC NP_001394662.1:p.Thr1500Argfs frameshift NM_001407734.1:c.4499delC NP_001394663.1:p.Thr1500Argfs frameshift NM_001407735.1:c.4499delC NP_001394664.1:p.Thr1500Argfs frameshift NM_001407736.1:c.4499delC NP_001394665.1:p.Thr1500Argfs frameshift NM_001407737.1:c.4499delC NP_001394666.1:p.Thr1500Argfs frameshift NM_001407738.1:c.4499delC NP_001394667.1:p.Thr1500Argfs frameshift NM_001407739.1:c.4499delC NP_001394668.1:p.Thr1500Argfs frameshift NM_001407740.1:c.4499delC NP_001394669.1:p.Thr1500Argfs frameshift NM_001407741.1:c.4499delC NP_001394670.1:p.Thr1500Argfs frameshift NM_001407742.1:c.4499delC NP_001394671.1:p.Thr1500Argfs frameshift NM_001407743.1:c.4499delC NP_001394672.1:p.Thr1500Argfs frameshift NM_001407744.1:c.4499delC NP_001394673.1:p.Thr1500Argfs frameshift NM_001407745.1:c.4499delC NP_001394674.1:p.Thr1500Argfs frameshift NM_001407746.1:c.4499delC NP_001394675.1:p.Thr1500Argfs frameshift NM_001407747.1:c.4499delC NP_001394676.1:p.Thr1500Argfs frameshift NM_001407748.1:c.4499delC NP_001394677.1:p.Thr1500Argfs frameshift NM_001407749.1:c.4499delC NP_001394678.1:p.Thr1500Argfs frameshift NM_001407750.1:c.4499delC NP_001394679.1:p.Thr1500Argfs frameshift NM_001407751.1:c.4499delC NP_001394680.1:p.Thr1500Argfs frameshift NM_001407752.1:c.4499delC NP_001394681.1:p.Thr1500Argfs frameshift NM_001407838.1:c.4496delC NP_001394767.1:p.Thr1499Argfs frameshift NM_001407839.1:c.4496delC NP_001394768.1:p.Thr1499Argfs frameshift NM_001407841.1:c.4496delC NP_001394770.1:p.Thr1499Argfs frameshift NM_001407842.1:c.4496delC NP_001394771.1:p.Thr1499Argfs frameshift NM_001407843.1:c.4496delC NP_001394772.1:p.Thr1499Argfs frameshift NM_001407844.1:c.4496delC NP_001394773.1:p.Thr1499Argfs frameshift NM_001407845.1:c.4496delC NP_001394774.1:p.Thr1499Argfs frameshift NM_001407846.1:c.4496delC NP_001394775.1:p.Thr1499Argfs frameshift NM_001407847.1:c.4496delC NP_001394776.1:p.Thr1499Argfs frameshift NM_001407848.1:c.4496delC NP_001394777.1:p.Thr1499Argfs frameshift NM_001407849.1:c.4496delC NP_001394778.1:p.Thr1499Argfs frameshift NM_001407850.1:c.4496delC NP_001394779.1:p.Thr1499Argfs frameshift NM_001407851.1:c.4496delC NP_001394780.1:p.Thr1499Argfs frameshift NM_001407852.1:c.4496delC NP_001394781.1:p.Thr1499Argfs frameshift NM_001407853.1:c.4496delC NP_001394782.1:p.Thr1499Argfs frameshift NM_001407854.1:c.4643delC NP_001394783.1:p.Thr1548Argfs frameshift NM_001407858.1:c.4640delC NP_001394787.1:p.Thr1547Argfs frameshift NM_001407859.1:c.4640delC NP_001394788.1:p.Thr1547Argfs frameshift NM_001407860.1:c.4640delC NP_001394789.1:p.Thr1547Argfs frameshift NM_001407861.1:c.4637delC NP_001394790.1:p.Thr1546Argfs frameshift NM_001407862.1:c.4442delC NP_001394791.1:p.Thr1481Argfs frameshift NM_001407863.1:c.4517delC NP_001394792.1:p.Thr1506Argfs frameshift NM_001407874.1:c.4436delC NP_001394803.1:p.Thr1479Argfs frameshift NM_001407875.1:c.4436delC NP_001394804.1:p.Thr1479Argfs frameshift NM_001407879.1:c.4433delC NP_001394808.1:p.Thr1478Argfs frameshift NM_001407881.1:c.4433delC NP_001394810.1:p.Thr1478Argfs frameshift NM_001407882.1:c.4433delC NP_001394811.1:p.Thr1478Argfs frameshift NM_001407884.1:c.4433delC NP_001394813.1:p.Thr1478Argfs frameshift NM_001407885.1:c.4433delC NP_001394814.1:p.Thr1478Argfs frameshift NM_001407886.1:c.4433delC NP_001394815.1:p.Thr1478Argfs frameshift NM_001407887.1:c.4433delC NP_001394816.1:p.Thr1478Argfs frameshift NM_001407889.1:c.4433delC NP_001394818.1:p.Thr1478Argfs frameshift NM_001407894.1:c.4430delC NP_001394823.1:p.Thr1477Argfs frameshift NM_001407895.1:c.4430delC NP_001394824.1:p.Thr1477Argfs frameshift NM_001407896.1:c.4430delC NP_001394825.1:p.Thr1477Argfs frameshift NM_001407897.1:c.4430delC NP_001394826.1:p.Thr1477Argfs frameshift NM_001407898.1:c.4430delC NP_001394827.1:p.Thr1477Argfs frameshift NM_001407899.1:c.4430delC NP_001394828.1:p.Thr1477Argfs frameshift NM_001407900.1:c.4430delC NP_001394829.1:p.Thr1477Argfs frameshift NM_001407902.1:c.4430delC NP_001394831.1:p.Thr1477Argfs frameshift NM_001407904.1:c.4430delC NP_001394833.1:p.Thr1477Argfs frameshift NM_001407906.1:c.4430delC NP_001394835.1:p.Thr1477Argfs frameshift NM_001407907.1:c.4430delC NP_001394836.1:p.Thr1477Argfs frameshift NM_001407908.1:c.4430delC NP_001394837.1:p.Thr1477Argfs frameshift NM_001407909.1:c.4430delC NP_001394838.1:p.Thr1477Argfs frameshift NM_001407910.1:c.4430delC NP_001394839.1:p.Thr1477Argfs frameshift NM_001407915.1:c.4427delC NP_001394844.1:p.Thr1476Argfs frameshift NM_001407916.1:c.4427delC NP_001394845.1:p.Thr1476Argfs frameshift NM_001407917.1:c.4427delC NP_001394846.1:p.Thr1476Argfs frameshift NM_001407918.1:c.4427delC NP_001394847.1:p.Thr1476Argfs frameshift NM_001407919.1:c.4520delC NP_001394848.1:p.Thr1507Argfs frameshift NM_001407920.1:c.4379delC NP_001394849.1:p.Thr1460Argfs frameshift NM_001407921.1:c.4379delC NP_001394850.1:p.Thr1460Argfs frameshift NM_001407922.1:c.4379delC NP_001394851.1:p.Thr1460Argfs frameshift NM_001407923.1:c.4379delC NP_001394852.1:p.Thr1460Argfs frameshift NM_001407924.1:c.4379delC NP_001394853.1:p.Thr1460Argfs frameshift NM_001407925.1:c.4379delC NP_001394854.1:p.Thr1460Argfs frameshift NM_001407926.1:c.4379delC NP_001394855.1:p.Thr1460Argfs frameshift NM_001407927.1:c.4376delC NP_001394856.1:p.Thr1459Argfs frameshift NM_001407928.1:c.4376delC NP_001394857.1:p.Thr1459Argfs frameshift NM_001407929.1:c.4376delC NP_001394858.1:p.Thr1459Argfs frameshift NM_001407930.1:c.4376delC NP_001394859.1:p.Thr1459Argfs frameshift NM_001407931.1:c.4376delC NP_001394860.1:p.Thr1459Argfs frameshift NM_001407932.1:c.4376delC NP_001394861.1:p.Thr1459Argfs frameshift NM_001407933.1:c.4376delC NP_001394862.1:p.Thr1459Argfs frameshift NM_001407934.1:c.4373delC NP_001394863.1:p.Thr1458Argfs frameshift NM_001407935.1:c.4373delC NP_001394864.1:p.Thr1458Argfs frameshift NM_001407936.1:c.4373delC NP_001394865.1:p.Thr1458Argfs frameshift NM_001407937.1:c.4520delC NP_001394866.1:p.Thr1507Argfs frameshift NM_001407938.1:c.4520delC NP_001394867.1:p.Thr1507Argfs frameshift NM_001407939.1:c.4517delC NP_001394868.1:p.Thr1506Argfs frameshift NM_001407940.1:c.4517delC NP_001394869.1:p.Thr1506Argfs frameshift NM_001407941.1:c.4514delC NP_001394870.1:p.Thr1505Argfs frameshift NM_001407942.1:c.4502delC NP_001394871.1:p.Thr1501Argfs frameshift NM_001407943.1:c.4499delC NP_001394872.1:p.Thr1500Argfs frameshift NM_001407944.1:c.4499delC NP_001394873.1:p.Thr1500Argfs frameshift NM_001407945.1:c.4499delC NP_001394874.1:p.Thr1500Argfs frameshift NM_001407946.1:c.4310delC NP_001394875.1:p.Thr1437Argfs frameshift NM_001407947.1:c.4310delC NP_001394876.1:p.Thr1437Argfs frameshift NM_001407948.1:c.4310delC NP_001394877.1:p.Thr1437Argfs frameshift NM_001407949.1:c.4310delC NP_001394878.1:p.Thr1437Argfs frameshift NM_001407950.1:c.4307delC NP_001394879.1:p.Thr1436Argfs frameshift NM_001407951.1:c.4307delC NP_001394880.1:p.Thr1436Argfs frameshift NM_001407952.1:c.4307delC NP_001394881.1:p.Thr1436Argfs frameshift NM_001407953.1:c.4307delC NP_001394882.1:p.Thr1436Argfs frameshift NM_001407954.1:c.4307delC NP_001394883.1:p.Thr1436Argfs frameshift NM_001407955.1:c.4307delC NP_001394884.1:p.Thr1436Argfs frameshift NM_001407956.1:c.4304delC NP_001394885.1:p.Thr1435Argfs frameshift NM_001407957.1:c.4304delC NP_001394886.1:p.Thr1435Argfs frameshift NM_001407958.1:c.4304delC NP_001394887.1:p.Thr1435Argfs frameshift NM_001407959.1:c.4262delC NP_001394888.1:p.Thr1421Argfs frameshift NM_001407960.1:c.4259delC NP_001394889.1:p.Thr1420Argfs frameshift NM_001407962.1:c.4259delC NP_001394891.1:p.Thr1420Argfs frameshift NM_001407963.1:c.4256delC NP_001394892.1:p.Thr1419Argfs frameshift NM_001407965.1:c.4136delC NP_001394894.1:p.Thr1379Argfs frameshift NM_001407966.1:c.3755delC NP_001394895.1:p.Thr1252Argfs frameshift NM_001407967.1:c.3752delC NP_001394896.1:p.Thr1251Argfs frameshift NM_001407968.1:c.2039delC NP_001394897.1:p.Thr680Argfs frameshift NM_001407969.1:c.2036delC NP_001394898.1:p.Thr679Argfs frameshift NM_001407970.1:c.1400delC NP_001394899.1:p.Thr467Argfs frameshift NM_001407971.1:c.1400delC NP_001394900.1:p.Thr467Argfs frameshift NM_001407972.1:c.1397delC NP_001394901.1:p.Thr466Argfs frameshift NM_001407973.1:c.1334delC NP_001394902.1:p.Thr445Argfs frameshift NM_001407974.1:c.1334delC NP_001394903.1:p.Thr445Argfs frameshift NM_001407975.1:c.1334delC NP_001394904.1:p.Thr445Argfs frameshift NM_001407976.1:c.1334delC NP_001394905.1:p.Thr445Argfs frameshift NM_001407977.1:c.1334delC NP_001394906.1:p.Thr445Argfs frameshift NM_001407978.1:c.1334delC NP_001394907.1:p.Thr445Argfs frameshift NM_001407979.1:c.1331delC NP_001394908.1:p.Thr444Argfs frameshift NM_001407980.1:c.1331delC NP_001394909.1:p.Thr444Argfs frameshift NM_001407981.1:c.1331delC NP_001394910.1:p.Thr444Argfs frameshift NM_001407982.1:c.1331delC NP_001394911.1:p.Thr444Argfs frameshift NM_001407983.1:c.1331delC NP_001394912.1:p.Thr444Argfs frameshift NM_001407984.1:c.1331delC NP_001394913.1:p.Thr444Argfs frameshift NM_001407985.1:c.1331delC NP_001394914.1:p.Thr444Argfs frameshift NM_001407986.1:c.1331delC NP_001394915.1:p.Thr444Argfs frameshift NM_001407990.1:c.1331delC NP_001394919.1:p.Thr444Argfs frameshift NM_001407991.1:c.1331delC NP_001394920.1:p.Thr444Argfs frameshift NM_001407992.1:c.1331delC NP_001394921.1:p.Thr444Argfs frameshift NM_001407993.1:c.1331delC NP_001394922.1:p.Thr444Argfs frameshift NM_001408392.1:c.1328delC NP_001395321.1:p.Thr443Argfs frameshift NM_001408396.1:c.1328delC NP_001395325.1:p.Thr443Argfs frameshift NM_001408397.1:c.1328delC NP_001395326.1:p.Thr443Argfs frameshift NM_001408398.1:c.1328delC NP_001395327.1:p.Thr443Argfs frameshift NM_001408399.1:c.1328delC NP_001395328.1:p.Thr443Argfs frameshift NM_001408400.1:c.1328delC NP_001395329.1:p.Thr443Argfs frameshift NM_001408401.1:c.1328delC NP_001395330.1:p.Thr443Argfs frameshift NM_001408402.1:c.1328delC NP_001395331.1:p.Thr443Argfs frameshift NM_001408403.1:c.1328delC NP_001395332.1:p.Thr443Argfs frameshift NM_001408404.1:c.1328delC NP_001395333.1:p.Thr443Argfs frameshift NM_001408406.1:c.1325delC NP_001395335.1:p.Thr442Argfs frameshift NM_001408407.1:c.1325delC NP_001395336.1:p.Thr442Argfs frameshift NM_001408408.1:c.1325delC NP_001395337.1:p.Thr442Argfs frameshift NM_001408409.1:c.1322delC NP_001395338.1:p.Thr441Argfs frameshift NM_001408410.1:c.1259delC NP_001395339.1:p.Thr420Argfs frameshift NM_001408411.1:c.1256delC NP_001395340.1:p.Thr419Argfs frameshift NM_001408412.1:c.1253delC NP_001395341.1:p.Thr418Argfs frameshift NM_001408413.1:c.1253delC NP_001395342.1:p.Thr418Argfs frameshift NM_001408414.1:c.1253delC NP_001395343.1:p.Thr418Argfs frameshift NM_001408415.1:c.1253delC NP_001395344.1:p.Thr418Argfs frameshift NM_001408416.1:c.1253delC NP_001395345.1:p.Thr418Argfs frameshift NM_001408418.1:c.1217delC NP_001395347.1:p.Thr406Argfs frameshift NM_001408419.1:c.1217delC NP_001395348.1:p.Thr406Argfs frameshift NM_001408420.1:c.1217delC NP_001395349.1:p.Thr406Argfs frameshift NM_001408421.1:c.1214delC NP_001395350.1:p.Thr405Argfs frameshift NM_001408422.1:c.1214delC NP_001395351.1:p.Thr405Argfs frameshift NM_001408423.1:c.1214delC NP_001395352.1:p.Thr405Argfs frameshift NM_001408424.1:c.1214delC NP_001395353.1:p.Thr405Argfs frameshift NM_001408425.1:c.1211delC NP_001395354.1:p.Thr404Argfs frameshift NM_001408426.1:c.1211delC NP_001395355.1:p.Thr404Argfs frameshift NM_001408427.1:c.1211delC NP_001395356.1:p.Thr404Argfs frameshift NM_001408428.1:c.1211delC NP_001395357.1:p.Thr404Argfs frameshift NM_001408429.1:c.1211delC NP_001395358.1:p.Thr404Argfs frameshift NM_001408430.1:c.1211delC NP_001395359.1:p.Thr404Argfs frameshift NM_001408431.1:c.1211delC NP_001395360.1:p.Thr404Argfs frameshift NM_001408432.1:c.1208delC NP_001395361.1:p.Thr403Argfs frameshift NM_001408433.1:c.1208delC NP_001395362.1:p.Thr403Argfs frameshift NM_001408434.1:c.1208delC NP_001395363.1:p.Thr403Argfs frameshift NM_001408435.1:c.1208delC NP_001395364.1:p.Thr403Argfs frameshift NM_001408436.1:c.1208delC NP_001395365.1:p.Thr403Argfs frameshift NM_001408437.1:c.1208delC NP_001395366.1:p.Thr403Argfs frameshift NM_001408438.1:c.1208delC NP_001395367.1:p.Thr403Argfs frameshift NM_001408439.1:c.1208delC NP_001395368.1:p.Thr403Argfs frameshift NM_001408440.1:c.1208delC NP_001395369.1:p.Thr403Argfs frameshift NM_001408441.1:c.1208delC NP_001395370.1:p.Thr403Argfs frameshift NM_001408442.1:c.1208delC NP_001395371.1:p.Thr403Argfs frameshift NM_001408443.1:c.1208delC NP_001395372.1:p.Thr403Argfs frameshift NM_001408444.1:c.1208delC NP_001395373.1:p.Thr403Argfs frameshift NM_001408445.1:c.1205delC NP_001395374.1:p.Thr402Argfs frameshift NM_001408446.1:c.1205delC NP_001395375.1:p.Thr402Argfs frameshift NM_001408447.1:c.1205delC NP_001395376.1:p.Thr402Argfs frameshift NM_001408448.1:c.1205delC NP_001395377.1:p.Thr402Argfs frameshift NM_001408450.1:c.1205delC NP_001395379.1:p.Thr402Argfs frameshift NM_001408451.1:c.1199delC NP_001395380.1:p.Thr400Argfs frameshift NM_001408452.1:c.1193delC NP_001395381.1:p.Thr398Argfs frameshift NM_001408453.1:c.1193delC NP_001395382.1:p.Thr398Argfs frameshift NM_001408454.1:c.1193delC NP_001395383.1:p.Thr398Argfs frameshift NM_001408455.1:c.1193delC NP_001395384.1:p.Thr398Argfs frameshift NM_001408456.1:c.1193delC NP_001395385.1:p.Thr398Argfs frameshift NM_001408457.1:c.1193delC NP_001395386.1:p.Thr398Argfs frameshift NM_001408458.1:c.1190delC NP_001395387.1:p.Thr397Argfs frameshift NM_001408459.1:c.1190delC NP_001395388.1:p.Thr397Argfs frameshift NM_001408460.1:c.1190delC NP_001395389.1:p.Thr397Argfs frameshift NM_001408461.1:c.1190delC NP_001395390.1:p.Thr397Argfs frameshift NM_001408462.1:c.1190delC NP_001395391.1:p.Thr397Argfs frameshift NM_001408463.1:c.1190delC NP_001395392.1:p.Thr397Argfs frameshift NM_001408464.1:c.1190delC NP_001395393.1:p.Thr397Argfs frameshift NM_001408465.1:c.1190delC NP_001395394.1:p.Thr397Argfs frameshift NM_001408466.1:c.1190delC NP_001395395.1:p.Thr397Argfs frameshift NM_001408467.1:c.1190delC NP_001395396.1:p.Thr397Argfs frameshift NM_001408468.1:c.1187delC NP_001395397.1:p.Thr396Argfs frameshift NM_001408469.1:c.1187delC NP_001395398.1:p.Thr396Argfs frameshift NM_001408470.1:c.1187delC NP_001395399.1:p.Thr396Argfs frameshift NM_001408472.1:c.1331delC NP_001395401.1:p.Thr444Argfs frameshift NM_001408473.1:c.1328delC NP_001395402.1:p.Thr443Argfs frameshift NM_001408474.1:c.1133delC NP_001395403.1:p.Thr378Argfs frameshift NM_001408475.1:c.1130delC NP_001395404.1:p.Thr377Argfs frameshift NM_001408476.1:c.1130delC NP_001395405.1:p.Thr377Argfs frameshift NM_001408478.1:c.1124delC NP_001395407.1:p.Thr375Argfs frameshift NM_001408479.1:c.1124delC NP_001395408.1:p.Thr375Argfs frameshift NM_001408480.1:c.1124delC NP_001395409.1:p.Thr375Argfs frameshift NM_001408481.1:c.1121delC NP_001395410.1:p.Thr374Argfs frameshift NM_001408482.1:c.1121delC NP_001395411.1:p.Thr374Argfs frameshift NM_001408483.1:c.1121delC NP_001395412.1:p.Thr374Argfs frameshift NM_001408484.1:c.1121delC NP_001395413.1:p.Thr374Argfs frameshift NM_001408485.1:c.1121delC NP_001395414.1:p.Thr374Argfs frameshift NM_001408489.1:c.1121delC NP_001395418.1:p.Thr374Argfs frameshift NM_001408490.1:c.1121delC NP_001395419.1:p.Thr374Argfs frameshift NM_001408491.1:c.1121delC NP_001395420.1:p.Thr374Argfs frameshift NM_001408492.1:c.1118delC NP_001395421.1:p.Thr373Argfs frameshift NM_001408493.1:c.1118delC NP_001395422.1:p.Thr373Argfs frameshift NM_001408494.1:c.1094delC NP_001395423.1:p.Thr365Argfs frameshift NM_001408495.1:c.1088delC NP_001395424.1:p.Thr363Argfs frameshift NM_001408496.1:c.1070delC NP_001395425.1:p.Thr357Argfs frameshift NM_001408497.1:c.1070delC NP_001395426.1:p.Thr357Argfs frameshift NM_001408498.1:c.1070delC NP_001395427.1:p.Thr357Argfs frameshift NM_001408499.1:c.1070delC NP_001395428.1:p.Thr357Argfs frameshift NM_001408500.1:c.1070delC NP_001395429.1:p.Thr357Argfs frameshift NM_001408501.1:c.1070delC NP_001395430.1:p.Thr357Argfs frameshift NM_001408502.1:c.1067delC NP_001395431.1:p.Thr356Argfs frameshift NM_001408503.1:c.1067delC NP_001395432.1:p.Thr356Argfs frameshift NM_001408504.1:c.1067delC NP_001395433.1:p.Thr356Argfs frameshift NM_001408505.1:c.1064delC NP_001395434.1:p.Thr355Argfs frameshift NM_001408506.1:c.1007delC NP_001395435.1:p.Thr336Argfs frameshift NM_001408507.1:c.1004delC NP_001395436.1:p.Thr335Argfs frameshift NM_001408508.1:c.995delC NP_001395437.1:p.Thr332Argfs frameshift NM_001408509.1:c.992delC NP_001395438.1:p.Thr331Argfs frameshift NM_001408510.1:c.953delC NP_001395439.1:p.Thr318Argfs frameshift NM_001408511.1:c.950delC NP_001395440.1:p.Thr317Argfs frameshift NM_001408512.1:c.830delC NP_001395441.1:p.Thr277Argfs frameshift NM_007297.4:c.4502del NP_009228.2:p.Thr1501fs frameshift NM_007298.4:c.1331delC NP_009229.2:p.Thr444Argfs frameshift NM_007299.4:c.1331del NP_009230.2:p.Thr444fs frameshift NM_007300.4:c.4706del NP_009231.2:p.Thr1569fs frameshift NM_007304.2:c.1331delC NP_009235.2:p.Thr444Argfs frameshift NR_027676.2:n.4820del non-coding transcript variant NC_000017.11:g.43074363del NC_000017.10:g.41226380del NG_005905.2:g.143621del LRG_292:g.143621del LRG_292t1:c.4643del LRG_292p1:p.Thr1548Argfs - Protein change
- T1501fs, T1548fs, T1569fs, T444fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074362: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.
-
- 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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13019 | 14822 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Likely pathogenic (1) |
criteria provided, single submitter
|
Mar 21, 2021 | RCV001358738.2 |
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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Likely pathogenic
(Mar 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001554586.1
First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
Variant summary: BRCA1 c.4643delC (p.Thr1548ArgfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.4643delC (p.Thr1548ArgfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251260 control chromosomes. To our knowledge, no occurrence of c.4643delC in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. (less)
|
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 rs2153993720 ...
HelpRecord last updated Jul 15, 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.