ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4744delinsCC (p.Asp1582fs)
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.4744delinsCC (p.Asp1582fs)
Variation ID: 2431250 Accession: VCV002431250.1
- Type and length
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Indel, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43071170 (GRCh38) [ NCBI UCSC ] 17: 41223187 (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 Mar 5, 2023 Mar 4, 2023 Jan 17, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4744delinsCC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1582fs frameshift NM_001407571.1:c.4531delGinsCC NP_001394500.1:p.Asp1511Profs frameshift NM_001407581.1:c.4810delGinsCC NP_001394510.1:p.Asp1604Profs frameshift NM_001407582.1:c.4810delGinsCC NP_001394511.1:p.Asp1604Profs frameshift NM_001407583.1:c.4807delGinsCC NP_001394512.1:p.Asp1603Profs frameshift NM_001407585.1:c.4807delGinsCC NP_001394514.1:p.Asp1603Profs frameshift NM_001407587.1:c.4807delGinsCC NP_001394516.1:p.Asp1603Profs frameshift NM_001407590.1:c.4804delGinsCC NP_001394519.1:p.Asp1602Profs frameshift NM_001407591.1:c.4804delGinsCC NP_001394520.1:p.Asp1602Profs frameshift NM_001407593.1:c.4744delGinsCC NP_001394522.1:p.Asp1582Profs frameshift NM_001407594.1:c.4744delGinsCC NP_001394523.1:p.Asp1582Profs frameshift NM_001407596.1:c.4744delGinsCC NP_001394525.1:p.Asp1582Profs frameshift NM_001407597.1:c.4744delGinsCC NP_001394526.1:p.Asp1582Profs frameshift NM_001407598.1:c.4744delGinsCC NP_001394527.1:p.Asp1582Profs frameshift NM_001407602.1:c.4744delGinsCC NP_001394531.1:p.Asp1582Profs frameshift NM_001407603.1:c.4744delGinsCC NP_001394532.1:p.Asp1582Profs frameshift NM_001407605.1:c.4744delGinsCC NP_001394534.1:p.Asp1582Profs frameshift NM_001407610.1:c.4741delGinsCC NP_001394539.1:p.Asp1581Profs frameshift NM_001407611.1:c.4741delGinsCC NP_001394540.1:p.Asp1581Profs frameshift NM_001407612.1:c.4741delGinsCC NP_001394541.1:p.Asp1581Profs frameshift NM_001407613.1:c.4741delGinsCC NP_001394542.1:p.Asp1581Profs frameshift NM_001407614.1:c.4741delGinsCC NP_001394543.1:p.Asp1581Profs frameshift NM_001407615.1:c.4741delGinsCC NP_001394544.1:p.Asp1581Profs frameshift NM_001407616.1:c.4741delGinsCC NP_001394545.1:p.Asp1581Profs frameshift NM_001407617.1:c.4741delGinsCC NP_001394546.1:p.Asp1581Profs frameshift NM_001407618.1:c.4741delGinsCC NP_001394547.1:p.Asp1581Profs frameshift NM_001407619.1:c.4741delGinsCC NP_001394548.1:p.Asp1581Profs frameshift NM_001407620.1:c.4741delGinsCC NP_001394549.1:p.Asp1581Profs frameshift NM_001407621.1:c.4741delGinsCC NP_001394550.1:p.Asp1581Profs frameshift NM_001407622.1:c.4741delGinsCC NP_001394551.1:p.Asp1581Profs frameshift NM_001407623.1:c.4741delGinsCC NP_001394552.1:p.Asp1581Profs frameshift NM_001407624.1:c.4741delGinsCC NP_001394553.1:p.Asp1581Profs frameshift NM_001407625.1:c.4741delGinsCC NP_001394554.1:p.Asp1581Profs frameshift NM_001407626.1:c.4741delGinsCC NP_001394555.1:p.Asp1581Profs frameshift NM_001407627.1:c.4738delGinsCC NP_001394556.1:p.Asp1580Profs frameshift NM_001407628.1:c.4738delGinsCC NP_001394557.1:p.Asp1580Profs frameshift NM_001407629.1:c.4738delGinsCC NP_001394558.1:p.Asp1580Profs frameshift NM_001407630.1:c.4738delGinsCC NP_001394559.1:p.Asp1580Profs frameshift NM_001407631.1:c.4738delGinsCC NP_001394560.1:p.Asp1580Profs frameshift NM_001407632.1:c.4738delGinsCC NP_001394561.1:p.Asp1580Profs frameshift NM_001407633.1:c.4738delGinsCC NP_001394562.1:p.Asp1580Profs frameshift NM_001407634.1:c.4738delGinsCC NP_001394563.1:p.Asp1580Profs frameshift NM_001407635.1:c.4738delGinsCC NP_001394564.1:p.Asp1580Profs frameshift NM_001407636.1:c.4738delGinsCC NP_001394565.1:p.Asp1580Profs frameshift NM_001407637.1:c.4738delGinsCC NP_001394566.1:p.Asp1580Profs frameshift NM_001407638.1:c.4738delGinsCC NP_001394567.1:p.Asp1580Profs frameshift NM_001407639.1:c.4738delGinsCC NP_001394568.1:p.Asp1580Profs frameshift NM_001407640.1:c.4738delGinsCC NP_001394569.1:p.Asp1580Profs frameshift NM_001407641.1:c.4738delGinsCC NP_001394570.1:p.Asp1580Profs frameshift NM_001407642.1:c.4738delGinsCC NP_001394571.1:p.Asp1580Profs frameshift NM_001407644.1:c.4735delGinsCC NP_001394573.1:p.Asp1579Profs frameshift NM_001407645.1:c.4735delGinsCC NP_001394574.1:p.Asp1579Profs frameshift NM_001407646.1:c.4732delGinsCC NP_001394575.1:p.Asp1578Profs frameshift NM_001407647.1:c.4729delGinsCC NP_001394576.1:p.Asp1577Profs frameshift NM_001407648.1:c.4687delGinsCC NP_001394577.1:p.Asp1563Profs frameshift NM_001407649.1:c.4684delGinsCC NP_001394578.1:p.Asp1562Profs frameshift NM_001407652.1:c.4744delGinsCC NP_001394581.1:p.Asp1582Profs frameshift NM_001407653.1:c.4666delGinsCC NP_001394582.1:p.Asp1556Profs frameshift NM_001407654.1:c.4666delGinsCC NP_001394583.1:p.Asp1556Profs frameshift NM_001407655.1:c.4666delGinsCC NP_001394584.1:p.Asp1556Profs frameshift NM_001407656.1:c.4663delGinsCC NP_001394585.1:p.Asp1555Profs frameshift NM_001407657.1:c.4663delGinsCC NP_001394586.1:p.Asp1555Profs frameshift NM_001407658.1:c.4663delGinsCC NP_001394587.1:p.Asp1555Profs frameshift NM_001407659.1:c.4660delGinsCC NP_001394588.1:p.Asp1554Profs frameshift NM_001407660.1:c.4660delGinsCC NP_001394589.1:p.Asp1554Profs frameshift NM_001407661.1:c.4660delGinsCC NP_001394590.1:p.Asp1554Profs frameshift NM_001407662.1:c.4660delGinsCC NP_001394591.1:p.Asp1554Profs frameshift NM_001407663.1:c.4660delGinsCC NP_001394592.1:p.Asp1554Profs frameshift NM_001407664.1:c.4621delGinsCC NP_001394593.1:p.Asp1541Profs frameshift NM_001407665.1:c.4621delGinsCC NP_001394594.1:p.Asp1541Profs frameshift NM_001407666.1:c.4621delGinsCC NP_001394595.1:p.Asp1541Profs frameshift NM_001407667.1:c.4621delGinsCC NP_001394596.1:p.Asp1541Profs frameshift NM_001407668.1:c.4621delGinsCC NP_001394597.1:p.Asp1541Profs frameshift NM_001407669.1:c.4621delGinsCC NP_001394598.1:p.Asp1541Profs frameshift NM_001407670.1:c.4618delGinsCC NP_001394599.1:p.Asp1540Profs frameshift NM_001407671.1:c.4618delGinsCC NP_001394600.1:p.Asp1540Profs frameshift NM_001407672.1:c.4618delGinsCC NP_001394601.1:p.Asp1540Profs frameshift NM_001407673.1:c.4618delGinsCC NP_001394602.1:p.Asp1540Profs frameshift NM_001407674.1:c.4618delGinsCC NP_001394603.1:p.Asp1540Profs frameshift NM_001407675.1:c.4618delGinsCC NP_001394604.1:p.Asp1540Profs frameshift NM_001407676.1:c.4618delGinsCC NP_001394605.1:p.Asp1540Profs frameshift NM_001407677.1:c.4618delGinsCC NP_001394606.1:p.Asp1540Profs frameshift NM_001407678.1:c.4618delGinsCC NP_001394607.1:p.Asp1540Profs frameshift NM_001407679.1:c.4618delGinsCC NP_001394608.1:p.Asp1540Profs frameshift NM_001407680.1:c.4618delGinsCC NP_001394609.1:p.Asp1540Profs frameshift NM_001407681.1:c.4615delGinsCC NP_001394610.1:p.Asp1539Profs frameshift NM_001407682.1:c.4615delGinsCC NP_001394611.1:p.Asp1539Profs frameshift NM_001407683.1:c.4615delGinsCC NP_001394612.1:p.Asp1539Profs frameshift NM_001407684.1:c.4744delGinsCC NP_001394613.1:p.Asp1582Profs frameshift NM_001407685.1:c.4615delGinsCC NP_001394614.1:p.Asp1539Profs frameshift NM_001407686.1:c.4615delGinsCC NP_001394615.1:p.Asp1539Profs frameshift NM_001407687.1:c.4615delGinsCC NP_001394616.1:p.Asp1539Profs frameshift NM_001407688.1:c.4615delGinsCC NP_001394617.1:p.Asp1539Profs frameshift NM_001407689.1:c.4615delGinsCC NP_001394618.1:p.Asp1539Profs frameshift NM_001407690.1:c.4612delGinsCC NP_001394619.1:p.Asp1538Profs frameshift NM_001407691.1:c.4612delGinsCC NP_001394620.1:p.Asp1538Profs frameshift NM_001407692.1:c.4603delGinsCC NP_001394621.1:p.Asp1535Profs frameshift NM_001407694.1:c.4603delGinsCC NP_001394623.1:p.Asp1535Profs frameshift NM_001407695.1:c.4603delGinsCC NP_001394624.1:p.Asp1535Profs frameshift NM_001407696.1:c.4603delGinsCC NP_001394625.1:p.Asp1535Profs frameshift NM_001407697.1:c.4603delGinsCC NP_001394626.1:p.Asp1535Profs frameshift NM_001407698.1:c.4603delGinsCC NP_001394627.1:p.Asp1535Profs frameshift NM_001407724.1:c.4603delGinsCC NP_001394653.1:p.Asp1535Profs frameshift NM_001407725.1:c.4603delGinsCC NP_001394654.1:p.Asp1535Profs frameshift NM_001407726.1:c.4603delGinsCC NP_001394655.1:p.Asp1535Profs frameshift NM_001407727.1:c.4603delGinsCC NP_001394656.1:p.Asp1535Profs frameshift NM_001407728.1:c.4603delGinsCC NP_001394657.1:p.Asp1535Profs frameshift NM_001407729.1:c.4603delGinsCC NP_001394658.1:p.Asp1535Profs frameshift NM_001407730.1:c.4603delGinsCC NP_001394659.1:p.Asp1535Profs frameshift NM_001407731.1:c.4603delGinsCC NP_001394660.1:p.Asp1535Profs frameshift NM_001407732.1:c.4600delGinsCC NP_001394661.1:p.Asp1534Profs frameshift NM_001407733.1:c.4600delGinsCC NP_001394662.1:p.Asp1534Profs frameshift NM_001407734.1:c.4600delGinsCC NP_001394663.1:p.Asp1534Profs frameshift NM_001407735.1:c.4600delGinsCC NP_001394664.1:p.Asp1534Profs frameshift NM_001407736.1:c.4600delGinsCC NP_001394665.1:p.Asp1534Profs frameshift NM_001407737.1:c.4600delGinsCC NP_001394666.1:p.Asp1534Profs frameshift NM_001407738.1:c.4600delGinsCC NP_001394667.1:p.Asp1534Profs frameshift NM_001407739.1:c.4600delGinsCC NP_001394668.1:p.Asp1534Profs frameshift NM_001407740.1:c.4600delGinsCC NP_001394669.1:p.Asp1534Profs frameshift NM_001407741.1:c.4600delGinsCC NP_001394670.1:p.Asp1534Profs frameshift NM_001407742.1:c.4600delGinsCC NP_001394671.1:p.Asp1534Profs frameshift NM_001407743.1:c.4600delGinsCC NP_001394672.1:p.Asp1534Profs frameshift NM_001407744.1:c.4600delGinsCC NP_001394673.1:p.Asp1534Profs frameshift NM_001407745.1:c.4600delGinsCC NP_001394674.1:p.Asp1534Profs frameshift NM_001407746.1:c.4600delGinsCC NP_001394675.1:p.Asp1534Profs frameshift NM_001407747.1:c.4600delGinsCC NP_001394676.1:p.Asp1534Profs frameshift NM_001407748.1:c.4600delGinsCC NP_001394677.1:p.Asp1534Profs frameshift NM_001407749.1:c.4600delGinsCC NP_001394678.1:p.Asp1534Profs frameshift NM_001407750.1:c.4600delGinsCC NP_001394679.1:p.Asp1534Profs frameshift NM_001407751.1:c.4600delGinsCC NP_001394680.1:p.Asp1534Profs frameshift NM_001407752.1:c.4600delGinsCC NP_001394681.1:p.Asp1534Profs frameshift NM_001407838.1:c.4597delGinsCC NP_001394767.1:p.Asp1533Profs frameshift NM_001407839.1:c.4597delGinsCC NP_001394768.1:p.Asp1533Profs frameshift NM_001407841.1:c.4597delGinsCC NP_001394770.1:p.Asp1533Profs frameshift NM_001407842.1:c.4597delGinsCC NP_001394771.1:p.Asp1533Profs frameshift NM_001407843.1:c.4597delGinsCC NP_001394772.1:p.Asp1533Profs frameshift NM_001407844.1:c.4597delGinsCC NP_001394773.1:p.Asp1533Profs frameshift NM_001407845.1:c.4597delGinsCC NP_001394774.1:p.Asp1533Profs frameshift NM_001407846.1:c.4597delGinsCC NP_001394775.1:p.Asp1533Profs frameshift NM_001407847.1:c.4597delGinsCC NP_001394776.1:p.Asp1533Profs frameshift NM_001407848.1:c.4597delGinsCC NP_001394777.1:p.Asp1533Profs frameshift NM_001407849.1:c.4597delGinsCC NP_001394778.1:p.Asp1533Profs frameshift NM_001407850.1:c.4597delGinsCC NP_001394779.1:p.Asp1533Profs frameshift NM_001407851.1:c.4597delGinsCC NP_001394780.1:p.Asp1533Profs frameshift NM_001407852.1:c.4597delGinsCC NP_001394781.1:p.Asp1533Profs frameshift NM_001407853.1:c.4597delGinsCC NP_001394782.1:p.Asp1533Profs frameshift NM_001407854.1:c.4744delGinsCC NP_001394783.1:p.Asp1582Profs frameshift NM_001407858.1:c.4741delGinsCC NP_001394787.1:p.Asp1581Profs frameshift NM_001407859.1:c.4741delGinsCC NP_001394788.1:p.Asp1581Profs frameshift NM_001407860.1:c.4741delGinsCC NP_001394789.1:p.Asp1581Profs frameshift NM_001407861.1:c.4738delGinsCC NP_001394790.1:p.Asp1580Profs frameshift NM_001407862.1:c.4543delGinsCC NP_001394791.1:p.Asp1515Profs frameshift NM_001407863.1:c.4618delGinsCC NP_001394792.1:p.Asp1540Profs frameshift NM_001407874.1:c.4537delGinsCC NP_001394803.1:p.Asp1513Profs frameshift NM_001407875.1:c.4537delGinsCC NP_001394804.1:p.Asp1513Profs frameshift NM_001407879.1:c.4534delGinsCC NP_001394808.1:p.Asp1512Profs frameshift NM_001407881.1:c.4534delGinsCC NP_001394810.1:p.Asp1512Profs frameshift NM_001407882.1:c.4534delGinsCC NP_001394811.1:p.Asp1512Profs frameshift NM_001407884.1:c.4534delGinsCC NP_001394813.1:p.Asp1512Profs frameshift NM_001407885.1:c.4534delGinsCC NP_001394814.1:p.Asp1512Profs frameshift NM_001407886.1:c.4534delGinsCC NP_001394815.1:p.Asp1512Profs frameshift NM_001407887.1:c.4534delGinsCC NP_001394816.1:p.Asp1512Profs frameshift NM_001407889.1:c.4534delGinsCC NP_001394818.1:p.Asp1512Profs frameshift NM_001407894.1:c.4531delGinsCC NP_001394823.1:p.Asp1511Profs frameshift NM_001407895.1:c.4531delGinsCC NP_001394824.1:p.Asp1511Profs frameshift NM_001407896.1:c.4531delGinsCC NP_001394825.1:p.Asp1511Profs frameshift NM_001407897.1:c.4531delGinsCC NP_001394826.1:p.Asp1511Profs frameshift NM_001407898.1:c.4531delGinsCC NP_001394827.1:p.Asp1511Profs frameshift NM_001407899.1:c.4531delGinsCC NP_001394828.1:p.Asp1511Profs frameshift NM_001407900.1:c.4531delGinsCC NP_001394829.1:p.Asp1511Profs frameshift NM_001407902.1:c.4531delGinsCC NP_001394831.1:p.Asp1511Profs frameshift NM_001407904.1:c.4531delGinsCC NP_001394833.1:p.Asp1511Profs frameshift NM_001407906.1:c.4531delGinsCC NP_001394835.1:p.Asp1511Profs frameshift NM_001407907.1:c.4531delGinsCC NP_001394836.1:p.Asp1511Profs frameshift NM_001407908.1:c.4531delGinsCC NP_001394837.1:p.Asp1511Profs frameshift NM_001407909.1:c.4531delGinsCC NP_001394838.1:p.Asp1511Profs frameshift NM_001407910.1:c.4531delGinsCC NP_001394839.1:p.Asp1511Profs frameshift NM_001407915.1:c.4528delGinsCC NP_001394844.1:p.Asp1510Profs frameshift NM_001407916.1:c.4528delGinsCC NP_001394845.1:p.Asp1510Profs frameshift NM_001407917.1:c.4528delGinsCC NP_001394846.1:p.Asp1510Profs frameshift NM_001407918.1:c.4528delGinsCC NP_001394847.1:p.Asp1510Profs frameshift NM_001407919.1:c.4621delGinsCC NP_001394848.1:p.Asp1541Profs frameshift NM_001407920.1:c.4480delGinsCC NP_001394849.1:p.Asp1494Profs frameshift NM_001407921.1:c.4480delGinsCC NP_001394850.1:p.Asp1494Profs frameshift NM_001407922.1:c.4480delGinsCC NP_001394851.1:p.Asp1494Profs frameshift NM_001407923.1:c.4480delGinsCC NP_001394852.1:p.Asp1494Profs frameshift NM_001407924.1:c.4480delGinsCC NP_001394853.1:p.Asp1494Profs frameshift NM_001407925.1:c.4480delGinsCC NP_001394854.1:p.Asp1494Profs frameshift NM_001407926.1:c.4480delGinsCC NP_001394855.1:p.Asp1494Profs frameshift NM_001407927.1:c.4477delGinsCC NP_001394856.1:p.Asp1493Profs frameshift NM_001407928.1:c.4477delGinsCC NP_001394857.1:p.Asp1493Profs frameshift NM_001407929.1:c.4477delGinsCC NP_001394858.1:p.Asp1493Profs frameshift NM_001407930.1:c.4477delGinsCC NP_001394859.1:p.Asp1493Profs frameshift NM_001407931.1:c.4477delGinsCC NP_001394860.1:p.Asp1493Profs frameshift NM_001407932.1:c.4477delGinsCC NP_001394861.1:p.Asp1493Profs frameshift NM_001407933.1:c.4477delGinsCC NP_001394862.1:p.Asp1493Profs frameshift NM_001407934.1:c.4474delGinsCC NP_001394863.1:p.Asp1492Profs frameshift NM_001407935.1:c.4474delGinsCC NP_001394864.1:p.Asp1492Profs frameshift NM_001407936.1:c.4474delGinsCC NP_001394865.1:p.Asp1492Profs frameshift NM_001407937.1:c.4621delGinsCC NP_001394866.1:p.Asp1541Profs frameshift NM_001407938.1:c.4621delGinsCC NP_001394867.1:p.Asp1541Profs frameshift NM_001407939.1:c.4618delGinsCC NP_001394868.1:p.Asp1540Profs frameshift NM_001407940.1:c.4618delGinsCC NP_001394869.1:p.Asp1540Profs frameshift NM_001407941.1:c.4615delGinsCC NP_001394870.1:p.Asp1539Profs frameshift NM_001407942.1:c.4603delGinsCC NP_001394871.1:p.Asp1535Profs frameshift NM_001407943.1:c.4600delGinsCC NP_001394872.1:p.Asp1534Profs frameshift NM_001407944.1:c.4600delGinsCC NP_001394873.1:p.Asp1534Profs frameshift NM_001407945.1:c.4600delGinsCC NP_001394874.1:p.Asp1534Profs frameshift NM_001407946.1:c.4411delGinsCC NP_001394875.1:p.Asp1471Profs frameshift NM_001407947.1:c.4411delGinsCC NP_001394876.1:p.Asp1471Profs frameshift NM_001407948.1:c.4411delGinsCC NP_001394877.1:p.Asp1471Profs frameshift NM_001407949.1:c.4411delGinsCC NP_001394878.1:p.Asp1471Profs frameshift NM_001407950.1:c.4408delGinsCC NP_001394879.1:p.Asp1470Profs frameshift NM_001407951.1:c.4408delGinsCC NP_001394880.1:p.Asp1470Profs frameshift NM_001407952.1:c.4408delGinsCC NP_001394881.1:p.Asp1470Profs frameshift NM_001407953.1:c.4408delGinsCC NP_001394882.1:p.Asp1470Profs frameshift NM_001407954.1:c.4408delGinsCC NP_001394883.1:p.Asp1470Profs frameshift NM_001407955.1:c.4408delGinsCC NP_001394884.1:p.Asp1470Profs frameshift NM_001407956.1:c.4405delGinsCC NP_001394885.1:p.Asp1469Profs frameshift NM_001407957.1:c.4405delGinsCC NP_001394886.1:p.Asp1469Profs frameshift NM_001407958.1:c.4405delGinsCC NP_001394887.1:p.Asp1469Profs frameshift NM_001407959.1:c.4363delGinsCC NP_001394888.1:p.Asp1455Profs frameshift NM_001407960.1:c.4360delGinsCC NP_001394889.1:p.Asp1454Profs frameshift NM_001407962.1:c.4360delGinsCC NP_001394891.1:p.Asp1454Profs frameshift NM_001407963.1:c.4357delGinsCC NP_001394892.1:p.Asp1453Profs frameshift NM_001407964.1:c.4282delGinsCC NP_001394893.1:p.Asp1428Profs frameshift NM_001407965.1:c.4237delGinsCC NP_001394894.1:p.Asp1413Profs frameshift NM_001407966.1:c.3856delGinsCC NP_001394895.1:p.Asp1286Profs frameshift NM_001407967.1:c.3853delGinsCC NP_001394896.1:p.Asp1285Profs frameshift NM_001407968.1:c.2140delGinsCC NP_001394897.1:p.Asp714Profs frameshift NM_001407969.1:c.2137delGinsCC NP_001394898.1:p.Asp713Profs frameshift NM_001407970.1:c.1501delGinsCC NP_001394899.1:p.Asp501Profs frameshift NM_001407971.1:c.1501delGinsCC NP_001394900.1:p.Asp501Profs frameshift NM_001407972.1:c.1498delGinsCC NP_001394901.1:p.Asp500Profs frameshift NM_001407973.1:c.1435delGinsCC NP_001394902.1:p.Asp479Profs frameshift NM_001407974.1:c.1435delGinsCC NP_001394903.1:p.Asp479Profs frameshift NM_001407975.1:c.1435delGinsCC NP_001394904.1:p.Asp479Profs frameshift NM_001407976.1:c.1435delGinsCC NP_001394905.1:p.Asp479Profs frameshift NM_001407977.1:c.1435delGinsCC NP_001394906.1:p.Asp479Profs frameshift NM_001407978.1:c.1435delGinsCC NP_001394907.1:p.Asp479Profs frameshift NM_001407979.1:c.1432delGinsCC NP_001394908.1:p.Asp478Profs frameshift NM_001407980.1:c.1432delGinsCC NP_001394909.1:p.Asp478Profs frameshift NM_001407981.1:c.1432delGinsCC NP_001394910.1:p.Asp478Profs frameshift NM_001407982.1:c.1432delGinsCC NP_001394911.1:p.Asp478Profs frameshift NM_001407983.1:c.1432delGinsCC NP_001394912.1:p.Asp478Profs frameshift NM_001407984.1:c.1432delGinsCC NP_001394913.1:p.Asp478Profs frameshift NM_001407985.1:c.1432delGinsCC NP_001394914.1:p.Asp478Profs frameshift NM_001407986.1:c.1432delGinsCC NP_001394915.1:p.Asp478Profs frameshift NM_001407990.1:c.1432delGinsCC NP_001394919.1:p.Asp478Profs frameshift NM_001407991.1:c.1432delGinsCC NP_001394920.1:p.Asp478Profs frameshift NM_001407992.1:c.1432delGinsCC NP_001394921.1:p.Asp478Profs frameshift NM_001407993.1:c.1432delGinsCC NP_001394922.1:p.Asp478Profs frameshift NM_001408392.1:c.1429delGinsCC NP_001395321.1:p.Asp477Profs frameshift NM_001408396.1:c.1429delGinsCC NP_001395325.1:p.Asp477Profs frameshift NM_001408397.1:c.1429delGinsCC NP_001395326.1:p.Asp477Profs frameshift NM_001408398.1:c.1429delGinsCC NP_001395327.1:p.Asp477Profs frameshift NM_001408399.1:c.1429delGinsCC NP_001395328.1:p.Asp477Profs frameshift NM_001408400.1:c.1429delGinsCC NP_001395329.1:p.Asp477Profs frameshift NM_001408401.1:c.1429delGinsCC NP_001395330.1:p.Asp477Profs frameshift NM_001408402.1:c.1429delGinsCC NP_001395331.1:p.Asp477Profs frameshift NM_001408403.1:c.1429delGinsCC NP_001395332.1:p.Asp477Profs frameshift NM_001408404.1:c.1429delGinsCC NP_001395333.1:p.Asp477Profs frameshift NM_001408406.1:c.1426delGinsCC NP_001395335.1:p.Asp476Profs frameshift NM_001408407.1:c.1426delGinsCC NP_001395336.1:p.Asp476Profs frameshift NM_001408408.1:c.1426delGinsCC NP_001395337.1:p.Asp476Profs frameshift NM_001408409.1:c.1423delGinsCC NP_001395338.1:p.Asp475Profs frameshift NM_001408410.1:c.1360delGinsCC NP_001395339.1:p.Asp454Profs frameshift NM_001408411.1:c.1357delGinsCC NP_001395340.1:p.Asp453Profs frameshift NM_001408412.1:c.1354delGinsCC NP_001395341.1:p.Asp452Profs frameshift NM_001408413.1:c.1354delGinsCC NP_001395342.1:p.Asp452Profs frameshift NM_001408414.1:c.1354delGinsCC NP_001395343.1:p.Asp452Profs frameshift NM_001408415.1:c.1354delGinsCC NP_001395344.1:p.Asp452Profs frameshift NM_001408416.1:c.1354delGinsCC NP_001395345.1:p.Asp452Profs frameshift NM_001408418.1:c.1318delGinsCC NP_001395347.1:p.Asp440Profs frameshift NM_001408419.1:c.1318delGinsCC NP_001395348.1:p.Asp440Profs frameshift NM_001408420.1:c.1318delGinsCC NP_001395349.1:p.Asp440Profs frameshift NM_001408421.1:c.1315delGinsCC NP_001395350.1:p.Asp439Profs frameshift NM_001408422.1:c.1315delGinsCC NP_001395351.1:p.Asp439Profs frameshift NM_001408423.1:c.1315delGinsCC NP_001395352.1:p.Asp439Profs frameshift NM_001408424.1:c.1315delGinsCC NP_001395353.1:p.Asp439Profs frameshift NM_001408425.1:c.1312delGinsCC NP_001395354.1:p.Asp438Profs frameshift NM_001408426.1:c.1312delGinsCC NP_001395355.1:p.Asp438Profs frameshift NM_001408427.1:c.1312delGinsCC NP_001395356.1:p.Asp438Profs frameshift NM_001408428.1:c.1312delGinsCC NP_001395357.1:p.Asp438Profs frameshift NM_001408429.1:c.1312delGinsCC NP_001395358.1:p.Asp438Profs frameshift NM_001408430.1:c.1312delGinsCC NP_001395359.1:p.Asp438Profs frameshift NM_001408431.1:c.1312delGinsCC NP_001395360.1:p.Asp438Profs frameshift NM_001408432.1:c.1309delGinsCC NP_001395361.1:p.Asp437Profs frameshift NM_001408433.1:c.1309delGinsCC NP_001395362.1:p.Asp437Profs frameshift NM_001408434.1:c.1309delGinsCC NP_001395363.1:p.Asp437Profs frameshift NM_001408435.1:c.1309delGinsCC NP_001395364.1:p.Asp437Profs frameshift NM_001408436.1:c.1309delGinsCC NP_001395365.1:p.Asp437Profs frameshift NM_001408437.1:c.1309delGinsCC NP_001395366.1:p.Asp437Profs frameshift NM_001408438.1:c.1309delGinsCC NP_001395367.1:p.Asp437Profs frameshift NM_001408439.1:c.1309delGinsCC NP_001395368.1:p.Asp437Profs frameshift NM_001408440.1:c.1309delGinsCC NP_001395369.1:p.Asp437Profs frameshift NM_001408441.1:c.1309delGinsCC NP_001395370.1:p.Asp437Profs frameshift NM_001408442.1:c.1309delGinsCC NP_001395371.1:p.Asp437Profs frameshift NM_001408443.1:c.1309delGinsCC NP_001395372.1:p.Asp437Profs frameshift NM_001408444.1:c.1309delGinsCC NP_001395373.1:p.Asp437Profs frameshift NM_001408445.1:c.1306delGinsCC NP_001395374.1:p.Asp436Profs frameshift NM_001408446.1:c.1306delGinsCC NP_001395375.1:p.Asp436Profs frameshift NM_001408447.1:c.1306delGinsCC NP_001395376.1:p.Asp436Profs frameshift NM_001408448.1:c.1306delGinsCC NP_001395377.1:p.Asp436Profs frameshift NM_001408450.1:c.1306delGinsCC NP_001395379.1:p.Asp436Profs frameshift NM_001408451.1:c.1300delGinsCC NP_001395380.1:p.Asp434Profs frameshift NM_001408452.1:c.1294delGinsCC NP_001395381.1:p.Asp432Profs frameshift NM_001408453.1:c.1294delGinsCC NP_001395382.1:p.Asp432Profs frameshift NM_001408454.1:c.1294delGinsCC NP_001395383.1:p.Asp432Profs frameshift NM_001408455.1:c.1294delGinsCC NP_001395384.1:p.Asp432Profs frameshift NM_001408456.1:c.1294delGinsCC NP_001395385.1:p.Asp432Profs frameshift NM_001408457.1:c.1294delGinsCC NP_001395386.1:p.Asp432Profs frameshift NM_001408458.1:c.1291delGinsCC NP_001395387.1:p.Asp431Profs frameshift NM_001408459.1:c.1291delGinsCC NP_001395388.1:p.Asp431Profs frameshift NM_001408460.1:c.1291delGinsCC NP_001395389.1:p.Asp431Profs frameshift NM_001408461.1:c.1291delGinsCC NP_001395390.1:p.Asp431Profs frameshift NM_001408462.1:c.1291delGinsCC NP_001395391.1:p.Asp431Profs frameshift NM_001408463.1:c.1291delGinsCC NP_001395392.1:p.Asp431Profs frameshift NM_001408464.1:c.1291delGinsCC NP_001395393.1:p.Asp431Profs frameshift NM_001408465.1:c.1291delGinsCC NP_001395394.1:p.Asp431Profs frameshift NM_001408466.1:c.1291delGinsCC NP_001395395.1:p.Asp431Profs frameshift NM_001408467.1:c.1291delGinsCC NP_001395396.1:p.Asp431Profs frameshift NM_001408468.1:c.1288delGinsCC NP_001395397.1:p.Asp430Profs frameshift NM_001408469.1:c.1288delGinsCC NP_001395398.1:p.Asp430Profs frameshift NM_001408470.1:c.1288delGinsCC NP_001395399.1:p.Asp430Profs frameshift NM_001408472.1:c.1432delGinsCC NP_001395401.1:p.Asp478Profs frameshift NM_001408473.1:c.1429delGinsCC NP_001395402.1:p.Asp477Profs frameshift NM_001408474.1:c.1234delGinsCC NP_001395403.1:p.Asp412Profs frameshift NM_001408475.1:c.1231delGinsCC NP_001395404.1:p.Asp411Profs frameshift NM_001408476.1:c.1231delGinsCC NP_001395405.1:p.Asp411Profs frameshift NM_001408478.1:c.1225delGinsCC NP_001395407.1:p.Asp409Profs frameshift NM_001408479.1:c.1225delGinsCC NP_001395408.1:p.Asp409Profs frameshift NM_001408480.1:c.1225delGinsCC NP_001395409.1:p.Asp409Profs frameshift NM_001408481.1:c.1222delGinsCC NP_001395410.1:p.Asp408Profs frameshift NM_001408482.1:c.1222delGinsCC NP_001395411.1:p.Asp408Profs frameshift NM_001408483.1:c.1222delGinsCC NP_001395412.1:p.Asp408Profs frameshift NM_001408484.1:c.1222delGinsCC NP_001395413.1:p.Asp408Profs frameshift NM_001408485.1:c.1222delGinsCC NP_001395414.1:p.Asp408Profs frameshift NM_001408489.1:c.1222delGinsCC NP_001395418.1:p.Asp408Profs frameshift NM_001408490.1:c.1222delGinsCC NP_001395419.1:p.Asp408Profs frameshift NM_001408491.1:c.1222delGinsCC NP_001395420.1:p.Asp408Profs frameshift NM_001408492.1:c.1219delGinsCC NP_001395421.1:p.Asp407Profs frameshift NM_001408493.1:c.1219delGinsCC NP_001395422.1:p.Asp407Profs frameshift NM_001408494.1:c.1195delGinsCC NP_001395423.1:p.Asp399Profs frameshift NM_001408495.1:c.1189delGinsCC NP_001395424.1:p.Asp397Profs frameshift NM_001408496.1:c.1171delGinsCC NP_001395425.1:p.Asp391Profs frameshift NM_001408497.1:c.1171delGinsCC NP_001395426.1:p.Asp391Profs frameshift NM_001408498.1:c.1171delGinsCC NP_001395427.1:p.Asp391Profs frameshift NM_001408499.1:c.1171delGinsCC NP_001395428.1:p.Asp391Profs frameshift NM_001408500.1:c.1171delGinsCC NP_001395429.1:p.Asp391Profs frameshift NM_001408501.1:c.1171delGinsCC NP_001395430.1:p.Asp391Profs frameshift NM_001408502.1:c.1168delGinsCC NP_001395431.1:p.Asp390Profs frameshift NM_001408503.1:c.1168delGinsCC NP_001395432.1:p.Asp390Profs frameshift NM_001408504.1:c.1168delGinsCC NP_001395433.1:p.Asp390Profs frameshift NM_001408505.1:c.1165delGinsCC NP_001395434.1:p.Asp389Profs frameshift NM_001408506.1:c.1108delGinsCC NP_001395435.1:p.Asp370Profs frameshift NM_001408507.1:c.1105delGinsCC NP_001395436.1:p.Asp369Profs frameshift NM_001408508.1:c.1096delGinsCC NP_001395437.1:p.Asp366Profs frameshift NM_001408509.1:c.1093delGinsCC NP_001395438.1:p.Asp365Profs frameshift NM_001408510.1:c.1054delGinsCC NP_001395439.1:p.Asp352Profs frameshift NM_001408511.1:c.1051delGinsCC NP_001395440.1:p.Asp351Profs frameshift NM_001408512.1:c.931delGinsCC NP_001395441.1:p.Asp311Profs frameshift NM_001408513.1:c.904delGinsCC NP_001395442.1:p.Asp302Profs frameshift NM_007297.4:c.4603delinsCC NP_009228.2:p.Asp1535fs frameshift NM_007298.4:c.1432delGinsCC NP_009229.2:p.Asp478Profs frameshift NM_007299.4:c.1432delinsCC NP_009230.2:p.Asp478fs frameshift NM_007300.4:c.4807delinsCC NP_009231.2:p.Asp1603fs frameshift NM_007304.2:c.1432delGinsCC NP_009235.2:p.Asp478Profs frameshift NR_027676.2:n.4921delinsCC non-coding transcript variant NC_000017.11:g.43071170delinsGG NC_000017.10:g.41223187delinsGG NG_005905.2:g.146814delinsCC LRG_292:g.146814delinsCC LRG_292t1:c.4744delGinsCC LRG_292p1:p.Asp1582Profs - Protein change
- D1535fs, D1582fs, D1603fs, D478fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071169:C:GG
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- 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 |
12943 | 14735 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (1) |
criteria provided, single submitter
|
Jan 17, 2023 | RCV003140310.1 |
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
(Jan 17, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV003806510.1
First in ClinVar: Mar 04, 2023 Last updated: Mar 04, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
|
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 this variant ...
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.