ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4410del (p.Gly1471fs)
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.4410del (p.Gly1471fs)
Variation ID: 2692271 Accession: VCV002692271.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076562 (GRCh38) [ NCBI UCSC ] 17: 41228579 (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 Feb 14, 2024 Feb 14, 2024 Mar 2, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4410del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1471fs frameshift NM_001407571.1:c.4197del NP_001394500.1:p.Gly1400fs frameshift NM_001407581.1:c.4476del NP_001394510.1:p.Gly1493fs frameshift NM_001407582.1:c.4476del NP_001394511.1:p.Gly1493fs frameshift NM_001407583.1:c.4473del NP_001394512.1:p.Gly1492fs frameshift NM_001407585.1:c.4473del NP_001394514.1:p.Gly1492fs frameshift NM_001407587.1:c.4473del NP_001394516.1:p.Gly1492fs frameshift NM_001407590.1:c.4470del NP_001394519.1:p.Gly1491fs frameshift NM_001407591.1:c.4470del NP_001394520.1:p.Gly1491fs frameshift NM_001407593.1:c.4410del NP_001394522.1:p.Gly1471fs frameshift NM_001407594.1:c.4410del NP_001394523.1:p.Gly1471fs frameshift NM_001407596.1:c.4410del NP_001394525.1:p.Gly1471fs frameshift NM_001407597.1:c.4410del NP_001394526.1:p.Gly1471fs frameshift NM_001407598.1:c.4410del NP_001394527.1:p.Gly1471fs frameshift NM_001407602.1:c.4410del NP_001394531.1:p.Gly1471fs frameshift NM_001407603.1:c.4410del NP_001394532.1:p.Gly1471fs frameshift NM_001407605.1:c.4410del NP_001394534.1:p.Gly1471fs frameshift NM_001407610.1:c.4407del NP_001394539.1:p.Gly1470fs frameshift NM_001407611.1:c.4407del NP_001394540.1:p.Gly1470fs frameshift NM_001407612.1:c.4407del NP_001394541.1:p.Gly1470fs frameshift NM_001407613.1:c.4407del NP_001394542.1:p.Gly1470fs frameshift NM_001407614.1:c.4407del NP_001394543.1:p.Gly1470fs frameshift NM_001407615.1:c.4407del NP_001394544.1:p.Gly1470fs frameshift NM_001407616.1:c.4407del NP_001394545.1:p.Gly1470fs frameshift NM_001407617.1:c.4407del NP_001394546.1:p.Gly1470fs frameshift NM_001407618.1:c.4407del NP_001394547.1:p.Gly1470fs frameshift NM_001407619.1:c.4407del NP_001394548.1:p.Gly1470fs frameshift NM_001407620.1:c.4407del NP_001394549.1:p.Gly1470fs frameshift NM_001407621.1:c.4407del NP_001394550.1:p.Gly1470fs frameshift NM_001407622.1:c.4407del NP_001394551.1:p.Gly1470fs frameshift NM_001407623.1:c.4407del NP_001394552.1:p.Gly1470fs frameshift NM_001407624.1:c.4407del NP_001394553.1:p.Gly1470fs frameshift NM_001407625.1:c.4407del NP_001394554.1:p.Gly1470fs frameshift NM_001407626.1:c.4407del NP_001394555.1:p.Gly1470fs frameshift NM_001407627.1:c.4404del NP_001394556.1:p.Gly1469fs frameshift NM_001407628.1:c.4404del NP_001394557.1:p.Gly1469fs frameshift NM_001407629.1:c.4404del NP_001394558.1:p.Gly1469fs frameshift NM_001407630.1:c.4404del NP_001394559.1:p.Gly1469fs frameshift NM_001407631.1:c.4404del NP_001394560.1:p.Gly1469fs frameshift NM_001407632.1:c.4404del NP_001394561.1:p.Gly1469fs frameshift NM_001407633.1:c.4404del NP_001394562.1:p.Gly1469fs frameshift NM_001407634.1:c.4404del NP_001394563.1:p.Gly1469fs frameshift NM_001407635.1:c.4404del NP_001394564.1:p.Gly1469fs frameshift NM_001407636.1:c.4404del NP_001394565.1:p.Gly1469fs frameshift NM_001407637.1:c.4404del NP_001394566.1:p.Gly1469fs frameshift NM_001407638.1:c.4404del NP_001394567.1:p.Gly1469fs frameshift NM_001407639.1:c.4404del NP_001394568.1:p.Gly1469fs frameshift NM_001407640.1:c.4404del NP_001394569.1:p.Gly1469fs frameshift NM_001407641.1:c.4404del NP_001394570.1:p.Gly1469fs frameshift NM_001407642.1:c.4404del NP_001394571.1:p.Gly1469fs frameshift NM_001407644.1:c.4401del NP_001394573.1:p.Gly1468fs frameshift NM_001407645.1:c.4401del NP_001394574.1:p.Gly1468fs frameshift NM_001407646.1:c.4398del NP_001394575.1:p.Gly1467fs frameshift NM_001407647.1:c.4395del NP_001394576.1:p.Gly1466fs frameshift NM_001407648.1:c.4353del NP_001394577.1:p.Gly1452fs frameshift NM_001407649.1:c.4350del NP_001394578.1:p.Gly1451fs frameshift NM_001407652.1:c.4410del NP_001394581.1:p.Gly1471fs frameshift NM_001407653.1:c.4332del NP_001394582.1:p.Gly1445fs frameshift NM_001407654.1:c.4332del NP_001394583.1:p.Gly1445fs frameshift NM_001407655.1:c.4332del NP_001394584.1:p.Gly1445fs frameshift NM_001407656.1:c.4329del NP_001394585.1:p.Gly1444fs frameshift NM_001407657.1:c.4329del NP_001394586.1:p.Gly1444fs frameshift NM_001407658.1:c.4329del NP_001394587.1:p.Gly1444fs frameshift NM_001407659.1:c.4326del NP_001394588.1:p.Gly1443fs frameshift NM_001407660.1:c.4326del NP_001394589.1:p.Gly1443fs frameshift NM_001407661.1:c.4326del NP_001394590.1:p.Gly1443fs frameshift NM_001407662.1:c.4326del NP_001394591.1:p.Gly1443fs frameshift NM_001407663.1:c.4326del NP_001394592.1:p.Gly1443fs frameshift NM_001407664.1:c.4287del NP_001394593.1:p.Gly1430fs frameshift NM_001407665.1:c.4287del NP_001394594.1:p.Gly1430fs frameshift NM_001407666.1:c.4287del NP_001394595.1:p.Gly1430fs frameshift NM_001407667.1:c.4287del NP_001394596.1:p.Gly1430fs frameshift NM_001407668.1:c.4287del NP_001394597.1:p.Gly1430fs frameshift NM_001407669.1:c.4287del NP_001394598.1:p.Gly1430fs frameshift NM_001407670.1:c.4284del NP_001394599.1:p.Gly1429fs frameshift NM_001407671.1:c.4284del NP_001394600.1:p.Gly1429fs frameshift NM_001407672.1:c.4284del NP_001394601.1:p.Gly1429fs frameshift NM_001407673.1:c.4284del NP_001394602.1:p.Gly1429fs frameshift NM_001407674.1:c.4284del NP_001394603.1:p.Gly1429fs frameshift NM_001407675.1:c.4284del NP_001394604.1:p.Gly1429fs frameshift NM_001407676.1:c.4284del NP_001394605.1:p.Gly1429fs frameshift NM_001407677.1:c.4284del NP_001394606.1:p.Gly1429fs frameshift NM_001407678.1:c.4284del NP_001394607.1:p.Gly1429fs frameshift NM_001407679.1:c.4284del NP_001394608.1:p.Gly1429fs frameshift NM_001407680.1:c.4284del NP_001394609.1:p.Gly1429fs frameshift NM_001407681.1:c.4281del NP_001394610.1:p.Gly1428fs frameshift NM_001407682.1:c.4281del NP_001394611.1:p.Gly1428fs frameshift NM_001407683.1:c.4281del NP_001394612.1:p.Gly1428fs frameshift NM_001407684.1:c.4410del NP_001394613.1:p.Gly1471fs frameshift NM_001407685.1:c.4281del NP_001394614.1:p.Gly1428fs frameshift NM_001407686.1:c.4281del NP_001394615.1:p.Gly1428fs frameshift NM_001407687.1:c.4281del NP_001394616.1:p.Gly1428fs frameshift NM_001407688.1:c.4281del NP_001394617.1:p.Gly1428fs frameshift NM_001407689.1:c.4281del NP_001394618.1:p.Gly1428fs frameshift NM_001407690.1:c.4278del NP_001394619.1:p.Gly1427fs frameshift NM_001407691.1:c.4278del NP_001394620.1:p.Gly1427fs frameshift NM_001407692.1:c.4269del NP_001394621.1:p.Gly1424fs frameshift NM_001407694.1:c.4269del NP_001394623.1:p.Gly1424fs frameshift NM_001407695.1:c.4269del NP_001394624.1:p.Gly1424fs frameshift NM_001407696.1:c.4269del NP_001394625.1:p.Gly1424fs frameshift NM_001407697.1:c.4269del NP_001394626.1:p.Gly1424fs frameshift NM_001407698.1:c.4269del NP_001394627.1:p.Gly1424fs frameshift NM_001407724.1:c.4269del NP_001394653.1:p.Gly1424fs frameshift NM_001407725.1:c.4269del NP_001394654.1:p.Gly1424fs frameshift NM_001407726.1:c.4269del NP_001394655.1:p.Gly1424fs frameshift NM_001407727.1:c.4269del NP_001394656.1:p.Gly1424fs frameshift NM_001407728.1:c.4269del NP_001394657.1:p.Gly1424fs frameshift NM_001407729.1:c.4269del NP_001394658.1:p.Gly1424fs frameshift NM_001407730.1:c.4269del NP_001394659.1:p.Gly1424fs frameshift NM_001407731.1:c.4269del NP_001394660.1:p.Gly1424fs frameshift NM_001407732.1:c.4266del NP_001394661.1:p.Gly1423fs frameshift NM_001407733.1:c.4266del NP_001394662.1:p.Gly1423fs frameshift NM_001407734.1:c.4266del NP_001394663.1:p.Gly1423fs frameshift NM_001407735.1:c.4266del NP_001394664.1:p.Gly1423fs frameshift NM_001407736.1:c.4266del NP_001394665.1:p.Gly1423fs frameshift NM_001407737.1:c.4266del NP_001394666.1:p.Gly1423fs frameshift NM_001407738.1:c.4266del NP_001394667.1:p.Gly1423fs frameshift NM_001407739.1:c.4266del NP_001394668.1:p.Gly1423fs frameshift NM_001407740.1:c.4266del NP_001394669.1:p.Gly1423fs frameshift NM_001407741.1:c.4266del NP_001394670.1:p.Gly1423fs frameshift NM_001407742.1:c.4266del NP_001394671.1:p.Gly1423fs frameshift NM_001407743.1:c.4266del NP_001394672.1:p.Gly1423fs frameshift NM_001407744.1:c.4266del NP_001394673.1:p.Gly1423fs frameshift NM_001407745.1:c.4266del NP_001394674.1:p.Gly1423fs frameshift NM_001407746.1:c.4266del NP_001394675.1:p.Gly1423fs frameshift NM_001407747.1:c.4266del NP_001394676.1:p.Gly1423fs frameshift NM_001407748.1:c.4266del NP_001394677.1:p.Gly1423fs frameshift NM_001407749.1:c.4266del NP_001394678.1:p.Gly1423fs frameshift NM_001407750.1:c.4266del NP_001394679.1:p.Gly1423fs frameshift NM_001407751.1:c.4266del NP_001394680.1:p.Gly1423fs frameshift NM_001407752.1:c.4266del NP_001394681.1:p.Gly1423fs frameshift NM_001407838.1:c.4263del NP_001394767.1:p.Gly1422fs frameshift NM_001407839.1:c.4263del NP_001394768.1:p.Gly1422fs frameshift NM_001407841.1:c.4263del NP_001394770.1:p.Gly1422fs frameshift NM_001407842.1:c.4263del NP_001394771.1:p.Gly1422fs frameshift NM_001407843.1:c.4263del NP_001394772.1:p.Gly1422fs frameshift NM_001407844.1:c.4263del NP_001394773.1:p.Gly1422fs frameshift NM_001407845.1:c.4263del NP_001394774.1:p.Gly1422fs frameshift NM_001407846.1:c.4263del NP_001394775.1:p.Gly1422fs frameshift NM_001407847.1:c.4263del NP_001394776.1:p.Gly1422fs frameshift NM_001407848.1:c.4263del NP_001394777.1:p.Gly1422fs frameshift NM_001407849.1:c.4263del NP_001394778.1:p.Gly1422fs frameshift NM_001407850.1:c.4263del NP_001394779.1:p.Gly1422fs frameshift NM_001407851.1:c.4263del NP_001394780.1:p.Gly1422fs frameshift NM_001407852.1:c.4263del NP_001394781.1:p.Gly1422fs frameshift NM_001407853.1:c.4263del NP_001394782.1:p.Gly1422fs frameshift NM_001407854.1:c.4410del NP_001394783.1:p.Gly1471fs frameshift NM_001407858.1:c.4407del NP_001394787.1:p.Gly1470fs frameshift NM_001407859.1:c.4407del NP_001394788.1:p.Gly1470fs frameshift NM_001407860.1:c.4407del NP_001394789.1:p.Gly1470fs frameshift NM_001407861.1:c.4404del NP_001394790.1:p.Gly1469fs frameshift NM_001407862.1:c.4209del NP_001394791.1:p.Gly1404fs frameshift NM_001407863.1:c.4284del NP_001394792.1:p.Gly1429fs frameshift NM_001407874.1:c.4203del NP_001394803.1:p.Gly1402fs frameshift NM_001407875.1:c.4203del NP_001394804.1:p.Gly1402fs frameshift NM_001407879.1:c.4200del NP_001394808.1:p.Gly1401fs frameshift NM_001407881.1:c.4200del NP_001394810.1:p.Gly1401fs frameshift NM_001407882.1:c.4200del NP_001394811.1:p.Gly1401fs frameshift NM_001407884.1:c.4200del NP_001394813.1:p.Gly1401fs frameshift NM_001407885.1:c.4200del NP_001394814.1:p.Gly1401fs frameshift NM_001407886.1:c.4200del NP_001394815.1:p.Gly1401fs frameshift NM_001407887.1:c.4200del NP_001394816.1:p.Gly1401fs frameshift NM_001407889.1:c.4200del NP_001394818.1:p.Gly1401fs frameshift NM_001407894.1:c.4197del NP_001394823.1:p.Gly1400fs frameshift NM_001407895.1:c.4197del NP_001394824.1:p.Gly1400fs frameshift NM_001407896.1:c.4197del NP_001394825.1:p.Gly1400fs frameshift NM_001407897.1:c.4197del NP_001394826.1:p.Gly1400fs frameshift NM_001407898.1:c.4197del NP_001394827.1:p.Gly1400fs frameshift NM_001407899.1:c.4197del NP_001394828.1:p.Gly1400fs frameshift NM_001407900.1:c.4197del NP_001394829.1:p.Gly1400fs frameshift NM_001407902.1:c.4197del NP_001394831.1:p.Gly1400fs frameshift NM_001407904.1:c.4197del NP_001394833.1:p.Gly1400fs frameshift NM_001407906.1:c.4197del NP_001394835.1:p.Gly1400fs frameshift NM_001407907.1:c.4197del NP_001394836.1:p.Gly1400fs frameshift NM_001407908.1:c.4197del NP_001394837.1:p.Gly1400fs frameshift NM_001407909.1:c.4197del NP_001394838.1:p.Gly1400fs frameshift NM_001407910.1:c.4197del NP_001394839.1:p.Gly1400fs frameshift NM_001407915.1:c.4194del NP_001394844.1:p.Gly1399fs frameshift NM_001407916.1:c.4194del NP_001394845.1:p.Gly1399fs frameshift NM_001407917.1:c.4194del NP_001394846.1:p.Gly1399fs frameshift NM_001407918.1:c.4194del NP_001394847.1:p.Gly1399fs frameshift NM_001407919.1:c.4287del NP_001394848.1:p.Gly1430fs frameshift NM_001407920.1:c.4146del NP_001394849.1:p.Gly1383fs frameshift NM_001407921.1:c.4146del NP_001394850.1:p.Gly1383fs frameshift NM_001407922.1:c.4146del NP_001394851.1:p.Gly1383fs frameshift NM_001407923.1:c.4146del NP_001394852.1:p.Gly1383fs frameshift NM_001407924.1:c.4146del NP_001394853.1:p.Gly1383fs frameshift NM_001407925.1:c.4146del NP_001394854.1:p.Gly1383fs frameshift NM_001407926.1:c.4146del NP_001394855.1:p.Gly1383fs frameshift NM_001407927.1:c.4143del NP_001394856.1:p.Gly1382fs frameshift NM_001407928.1:c.4143del NP_001394857.1:p.Gly1382fs frameshift NM_001407929.1:c.4143del NP_001394858.1:p.Gly1382fs frameshift NM_001407930.1:c.4143del NP_001394859.1:p.Gly1382fs frameshift NM_001407931.1:c.4143del NP_001394860.1:p.Gly1382fs frameshift NM_001407932.1:c.4143del NP_001394861.1:p.Gly1382fs frameshift NM_001407933.1:c.4143del NP_001394862.1:p.Gly1382fs frameshift NM_001407934.1:c.4140del NP_001394863.1:p.Gly1381fs frameshift NM_001407935.1:c.4140del NP_001394864.1:p.Gly1381fs frameshift NM_001407936.1:c.4140del NP_001394865.1:p.Gly1381fs frameshift NM_001407937.1:c.4287del NP_001394866.1:p.Gly1430fs frameshift NM_001407938.1:c.4287del NP_001394867.1:p.Gly1430fs frameshift NM_001407939.1:c.4284del NP_001394868.1:p.Gly1429fs frameshift NM_001407940.1:c.4284del NP_001394869.1:p.Gly1429fs frameshift NM_001407941.1:c.4281del NP_001394870.1:p.Gly1428fs frameshift NM_001407942.1:c.4269del NP_001394871.1:p.Gly1424fs frameshift NM_001407943.1:c.4266del NP_001394872.1:p.Gly1423fs frameshift NM_001407944.1:c.4266del NP_001394873.1:p.Gly1423fs frameshift NM_001407945.1:c.4266del NP_001394874.1:p.Gly1423fs frameshift NM_001407946.1:c.4077del NP_001394875.1:p.Gly1360fs frameshift NM_001407947.1:c.4077del NP_001394876.1:p.Gly1360fs frameshift NM_001407948.1:c.4077del NP_001394877.1:p.Gly1360fs frameshift NM_001407949.1:c.4077del NP_001394878.1:p.Gly1360fs frameshift NM_001407950.1:c.4074del NP_001394879.1:p.Gly1359fs frameshift NM_001407951.1:c.4074del NP_001394880.1:p.Gly1359fs frameshift NM_001407952.1:c.4074del NP_001394881.1:p.Gly1359fs frameshift NM_001407953.1:c.4074del NP_001394882.1:p.Gly1359fs frameshift NM_001407954.1:c.4074del NP_001394883.1:p.Gly1359fs frameshift NM_001407955.1:c.4074del NP_001394884.1:p.Gly1359fs frameshift NM_001407956.1:c.4071del NP_001394885.1:p.Gly1358fs frameshift NM_001407957.1:c.4071del NP_001394886.1:p.Gly1358fs frameshift NM_001407958.1:c.4071del NP_001394887.1:p.Gly1358fs frameshift NM_001407959.1:c.4029del NP_001394888.1:p.Gly1344fs frameshift NM_001407960.1:c.4026del NP_001394889.1:p.Gly1343fs frameshift NM_001407962.1:c.4026del NP_001394891.1:p.Gly1343fs frameshift NM_001407963.1:c.4023del NP_001394892.1:p.Gly1342fs frameshift NM_001407964.1:c.4214-5324del intron variant NM_001407965.1:c.3903del NP_001394894.1:p.Gly1302fs frameshift NM_001407966.1:c.3522del NP_001394895.1:p.Gly1175fs frameshift NM_001407967.1:c.3519del NP_001394896.1:p.Gly1174fs frameshift NM_001407968.1:c.1806del NP_001394897.1:p.Gly603fs frameshift NM_001407969.1:c.1803del NP_001394898.1:p.Gly602fs frameshift NM_001407970.1:c.1167del NP_001394899.1:p.Gly390fs frameshift NM_001407971.1:c.1167del NP_001394900.1:p.Gly390fs frameshift NM_001407972.1:c.1164del NP_001394901.1:p.Gly389fs frameshift NM_001407973.1:c.1101del NP_001394902.1:p.Gly368fs frameshift NM_001407974.1:c.1101del NP_001394903.1:p.Gly368fs frameshift NM_001407975.1:c.1101del NP_001394904.1:p.Gly368fs frameshift NM_001407976.1:c.1101del NP_001394905.1:p.Gly368fs frameshift NM_001407977.1:c.1101del NP_001394906.1:p.Gly368fs frameshift NM_001407978.1:c.1101del NP_001394907.1:p.Gly368fs frameshift NM_001407979.1:c.1098del NP_001394908.1:p.Gly367fs frameshift NM_001407980.1:c.1098del NP_001394909.1:p.Gly367fs frameshift NM_001407981.1:c.1098del NP_001394910.1:p.Gly367fs frameshift NM_001407982.1:c.1098del NP_001394911.1:p.Gly367fs frameshift NM_001407983.1:c.1098del NP_001394912.1:p.Gly367fs frameshift NM_001407984.1:c.1098del NP_001394913.1:p.Gly367fs frameshift NM_001407985.1:c.1098del NP_001394914.1:p.Gly367fs frameshift NM_001407986.1:c.1098del NP_001394915.1:p.Gly367fs frameshift NM_001407990.1:c.1098del NP_001394919.1:p.Gly367fs frameshift NM_001407991.1:c.1098del NP_001394920.1:p.Gly367fs frameshift NM_001407992.1:c.1098del NP_001394921.1:p.Gly367fs frameshift NM_001407993.1:c.1098del NP_001394922.1:p.Gly367fs frameshift NM_001408392.1:c.1095del NP_001395321.1:p.Gly366fs frameshift NM_001408396.1:c.1095del NP_001395325.1:p.Gly366fs frameshift NM_001408397.1:c.1095del NP_001395326.1:p.Gly366fs frameshift NM_001408398.1:c.1095del NP_001395327.1:p.Gly366fs frameshift NM_001408399.1:c.1095del NP_001395328.1:p.Gly366fs frameshift NM_001408400.1:c.1095del NP_001395329.1:p.Gly366fs frameshift NM_001408401.1:c.1095del NP_001395330.1:p.Gly366fs frameshift NM_001408402.1:c.1095del NP_001395331.1:p.Gly366fs frameshift NM_001408403.1:c.1095del NP_001395332.1:p.Gly366fs frameshift NM_001408404.1:c.1095del NP_001395333.1:p.Gly366fs frameshift NM_001408406.1:c.1092del NP_001395335.1:p.Gly365fs frameshift NM_001408407.1:c.1092del NP_001395336.1:p.Gly365fs frameshift NM_001408408.1:c.1092del NP_001395337.1:p.Gly365fs frameshift NM_001408409.1:c.1089del NP_001395338.1:p.Gly364fs frameshift NM_001408410.1:c.1026del NP_001395339.1:p.Gly343fs frameshift NM_001408411.1:c.1023del NP_001395340.1:p.Gly342fs frameshift NM_001408412.1:c.1020del NP_001395341.1:p.Gly341fs frameshift NM_001408413.1:c.1020del NP_001395342.1:p.Gly341fs frameshift NM_001408414.1:c.1020del NP_001395343.1:p.Gly341fs frameshift NM_001408415.1:c.1020del NP_001395344.1:p.Gly341fs frameshift NM_001408416.1:c.1020del NP_001395345.1:p.Gly341fs frameshift NM_001408418.1:c.984del NP_001395347.1:p.Gly329fs frameshift NM_001408419.1:c.984del NP_001395348.1:p.Gly329fs frameshift NM_001408420.1:c.984del NP_001395349.1:p.Gly329fs frameshift NM_001408421.1:c.981del NP_001395350.1:p.Gly328fs frameshift NM_001408422.1:c.981del NP_001395351.1:p.Gly328fs frameshift NM_001408423.1:c.981del NP_001395352.1:p.Gly328fs frameshift NM_001408424.1:c.981del NP_001395353.1:p.Gly328fs frameshift NM_001408425.1:c.978del NP_001395354.1:p.Gly327fs frameshift NM_001408426.1:c.978del NP_001395355.1:p.Gly327fs frameshift NM_001408427.1:c.978del NP_001395356.1:p.Gly327fs frameshift NM_001408428.1:c.978del NP_001395357.1:p.Gly327fs frameshift NM_001408429.1:c.978del NP_001395358.1:p.Gly327fs frameshift NM_001408430.1:c.978del NP_001395359.1:p.Gly327fs frameshift NM_001408431.1:c.978del NP_001395360.1:p.Gly327fs frameshift NM_001408432.1:c.975del NP_001395361.1:p.Gly326fs frameshift NM_001408433.1:c.975del NP_001395362.1:p.Gly326fs frameshift NM_001408434.1:c.975del NP_001395363.1:p.Gly326fs frameshift NM_001408435.1:c.975del NP_001395364.1:p.Gly326fs frameshift NM_001408436.1:c.975del NP_001395365.1:p.Gly326fs frameshift NM_001408437.1:c.975del NP_001395366.1:p.Gly326fs frameshift NM_001408438.1:c.975del NP_001395367.1:p.Gly326fs frameshift NM_001408439.1:c.975del NP_001395368.1:p.Gly326fs frameshift NM_001408440.1:c.975del NP_001395369.1:p.Gly326fs frameshift NM_001408441.1:c.975del NP_001395370.1:p.Gly326fs frameshift NM_001408442.1:c.975del NP_001395371.1:p.Gly326fs frameshift NM_001408443.1:c.975del NP_001395372.1:p.Gly326fs frameshift NM_001408444.1:c.975del NP_001395373.1:p.Gly326fs frameshift NM_001408445.1:c.972del NP_001395374.1:p.Gly325fs frameshift NM_001408446.1:c.972del NP_001395375.1:p.Gly325fs frameshift NM_001408447.1:c.972del NP_001395376.1:p.Gly325fs frameshift NM_001408448.1:c.972del NP_001395377.1:p.Gly325fs frameshift NM_001408450.1:c.972del NP_001395379.1:p.Gly325fs frameshift NM_001408451.1:c.966del NP_001395380.1:p.Gly323fs frameshift NM_001408452.1:c.960del NP_001395381.1:p.Gly321fs frameshift NM_001408453.1:c.960del NP_001395382.1:p.Gly321fs frameshift NM_001408454.1:c.960del NP_001395383.1:p.Gly321fs frameshift NM_001408455.1:c.960del NP_001395384.1:p.Gly321fs frameshift NM_001408456.1:c.960del NP_001395385.1:p.Gly321fs frameshift NM_001408457.1:c.960del NP_001395386.1:p.Gly321fs frameshift NM_001408458.1:c.957del NP_001395387.1:p.Gly320fs frameshift NM_001408459.1:c.957del NP_001395388.1:p.Gly320fs frameshift NM_001408460.1:c.957del NP_001395389.1:p.Gly320fs frameshift NM_001408461.1:c.957del NP_001395390.1:p.Gly320fs frameshift NM_001408462.1:c.957del NP_001395391.1:p.Gly320fs frameshift NM_001408463.1:c.957del NP_001395392.1:p.Gly320fs frameshift NM_001408464.1:c.957del NP_001395393.1:p.Gly320fs frameshift NM_001408465.1:c.957del NP_001395394.1:p.Gly320fs frameshift NM_001408466.1:c.957del NP_001395395.1:p.Gly320fs frameshift NM_001408467.1:c.957del NP_001395396.1:p.Gly320fs frameshift NM_001408468.1:c.954del NP_001395397.1:p.Gly319fs frameshift NM_001408469.1:c.954del NP_001395398.1:p.Gly319fs frameshift NM_001408470.1:c.954del NP_001395399.1:p.Gly319fs frameshift NM_001408472.1:c.1098del NP_001395401.1:p.Gly367fs frameshift NM_001408473.1:c.1095del NP_001395402.1:p.Gly366fs frameshift NM_001408474.1:c.900del NP_001395403.1:p.Gly301fs frameshift NM_001408475.1:c.897del NP_001395404.1:p.Gly300fs frameshift NM_001408476.1:c.897del NP_001395405.1:p.Gly300fs frameshift NM_001408478.1:c.891del NP_001395407.1:p.Gly298fs frameshift NM_001408479.1:c.891del NP_001395408.1:p.Gly298fs frameshift NM_001408480.1:c.891del NP_001395409.1:p.Gly298fs frameshift NM_001408481.1:c.888del NP_001395410.1:p.Gly297fs frameshift NM_001408482.1:c.888del NP_001395411.1:p.Gly297fs frameshift NM_001408483.1:c.888del NP_001395412.1:p.Gly297fs frameshift NM_001408484.1:c.888del NP_001395413.1:p.Gly297fs frameshift NM_001408485.1:c.888del NP_001395414.1:p.Gly297fs frameshift NM_001408489.1:c.888del NP_001395418.1:p.Gly297fs frameshift NM_001408490.1:c.888del NP_001395419.1:p.Gly297fs frameshift NM_001408491.1:c.888del NP_001395420.1:p.Gly297fs frameshift NM_001408492.1:c.885del NP_001395421.1:p.Gly296fs frameshift NM_001408493.1:c.885del NP_001395422.1:p.Gly296fs frameshift NM_001408494.1:c.861del NP_001395423.1:p.Gly288fs frameshift NM_001408495.1:c.855del NP_001395424.1:p.Gly286fs frameshift NM_001408496.1:c.837del NP_001395425.1:p.Gly280fs frameshift NM_001408497.1:c.837del NP_001395426.1:p.Gly280fs frameshift NM_001408498.1:c.837del NP_001395427.1:p.Gly280fs frameshift NM_001408499.1:c.837del NP_001395428.1:p.Gly280fs frameshift NM_001408500.1:c.837del NP_001395429.1:p.Gly280fs frameshift NM_001408501.1:c.837del NP_001395430.1:p.Gly280fs frameshift NM_001408502.1:c.834del NP_001395431.1:p.Gly279fs frameshift NM_001408503.1:c.834del NP_001395432.1:p.Gly279fs frameshift NM_001408504.1:c.834del NP_001395433.1:p.Gly279fs frameshift NM_001408505.1:c.831del NP_001395434.1:p.Gly278fs frameshift NM_001408506.1:c.774del NP_001395435.1:p.Gly259fs frameshift NM_001408507.1:c.771del NP_001395436.1:p.Gly258fs frameshift NM_001408508.1:c.762del NP_001395437.1:p.Gly255fs frameshift NM_001408509.1:c.759del NP_001395438.1:p.Gly254fs frameshift NM_001408510.1:c.720del NP_001395439.1:p.Gly241fs frameshift NM_001408511.1:c.717del NP_001395440.1:p.Gly240fs frameshift NM_001408512.1:c.597del NP_001395441.1:p.Gly200fs frameshift NM_001408513.1:c.836-5324del intron variant NM_001408514.1:c.838+5842del intron variant NM_007297.4:c.4269del NP_009228.2:p.Gly1424fs frameshift NM_007298.4:c.1098del NP_009229.2:p.Gly367fs frameshift NM_007299.4:c.1098del NP_009230.2:p.Gly367fs frameshift NM_007300.4:c.4473del NP_009231.2:p.Gly1492fs frameshift NM_007304.2:c.1097delA NP_009235.2:p.Gly367Alafs frameshift NR_027676.2:n.4586delA NC_000017.11:g.43076563del NC_000017.10:g.41228580del NG_005905.2:g.141422del LRG_292:g.141422del LRG_292t1:c.4409del LRG_292p1:p.Gly1471Alafs - Protein change
- G1174fs, G1175fs, G1302fs, G1342fs, G1343fs, G1344fs, G1358fs, G1359fs, G1360fs, G1381fs, G1382fs, G1383fs, G1399fs, G1400fs, G1401fs, G1402fs, G1404fs, G1422fs, G1423fs, G1424fs, G1427fs, G1428fs, G1429fs, G1430fs, G1443fs, G1444fs, G1445fs, G1451fs, G1452fs, G1466fs, G1467fs, G1468fs, G1469fs, G1470fs, G1471fs, G1491fs, G1492fs, G1493fs, G200fs, G240fs, G241fs, G254fs, G255fs, G258fs, G259fs, G278fs, G279fs, G280fs, G286fs, G288fs, G296fs, G297fs, G298fs, G300fs, G301fs, G319fs, G320fs, G321fs, G323fs, G325fs, G326fs, G327fs, G328fs, G329fs, G341fs, G342fs, G343fs, G364fs, G365fs, G366fs, G367fs, G368fs, G389fs, G390fs, G602fs, G603fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076561:TT:T
-
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.
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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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Pathogenic (1) |
no assertion criteria provided
|
Mar 2, 2020 | RCV003494468.1 |
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
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004243988.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
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.