ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
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.
Uncertain significance(6); Likely benign(3)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
Variation ID: 55077 Accession: VCV000055077.27
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091500 (GRCh38) [ NCBI UCSC ] 17: 41243517 (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 1, 2014 May 1, 2024 Jan 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4031A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1344Gly missense NM_001407571.1:c.3818A>G NP_001394500.1:p.Asp1273Gly missense NM_001407581.1:c.4031A>G NP_001394510.1:p.Asp1344Gly missense NM_001407582.1:c.4031A>G NP_001394511.1:p.Asp1344Gly missense NM_001407583.1:c.4031A>G NP_001394512.1:p.Asp1344Gly missense NM_001407585.1:c.4031A>G NP_001394514.1:p.Asp1344Gly missense NM_001407587.1:c.4028A>G NP_001394516.1:p.Asp1343Gly missense NM_001407590.1:c.4028A>G NP_001394519.1:p.Asp1343Gly missense NM_001407591.1:c.4028A>G NP_001394520.1:p.Asp1343Gly missense NM_001407593.1:c.4031A>G NP_001394522.1:p.Asp1344Gly missense NM_001407594.1:c.4031A>G NP_001394523.1:p.Asp1344Gly missense NM_001407596.1:c.4031A>G NP_001394525.1:p.Asp1344Gly missense NM_001407597.1:c.4031A>G NP_001394526.1:p.Asp1344Gly missense NM_001407598.1:c.4031A>G NP_001394527.1:p.Asp1344Gly missense NM_001407602.1:c.4031A>G NP_001394531.1:p.Asp1344Gly missense NM_001407603.1:c.4031A>G NP_001394532.1:p.Asp1344Gly missense NM_001407605.1:c.4031A>G NP_001394534.1:p.Asp1344Gly missense NM_001407610.1:c.4028A>G NP_001394539.1:p.Asp1343Gly missense NM_001407611.1:c.4028A>G NP_001394540.1:p.Asp1343Gly missense NM_001407612.1:c.4028A>G NP_001394541.1:p.Asp1343Gly missense NM_001407613.1:c.4028A>G NP_001394542.1:p.Asp1343Gly missense NM_001407614.1:c.4028A>G NP_001394543.1:p.Asp1343Gly missense NM_001407615.1:c.4028A>G NP_001394544.1:p.Asp1343Gly missense NM_001407616.1:c.4031A>G NP_001394545.1:p.Asp1344Gly missense NM_001407617.1:c.4031A>G NP_001394546.1:p.Asp1344Gly missense NM_001407618.1:c.4031A>G NP_001394547.1:p.Asp1344Gly missense NM_001407619.1:c.4031A>G NP_001394548.1:p.Asp1344Gly missense NM_001407620.1:c.4031A>G NP_001394549.1:p.Asp1344Gly missense NM_001407621.1:c.4031A>G NP_001394550.1:p.Asp1344Gly missense NM_001407622.1:c.4031A>G NP_001394551.1:p.Asp1344Gly missense NM_001407623.1:c.4031A>G NP_001394552.1:p.Asp1344Gly missense NM_001407624.1:c.4031A>G NP_001394553.1:p.Asp1344Gly missense NM_001407625.1:c.4031A>G NP_001394554.1:p.Asp1344Gly missense NM_001407626.1:c.4031A>G NP_001394555.1:p.Asp1344Gly missense NM_001407627.1:c.4028A>G NP_001394556.1:p.Asp1343Gly missense NM_001407628.1:c.4028A>G NP_001394557.1:p.Asp1343Gly missense NM_001407629.1:c.4028A>G NP_001394558.1:p.Asp1343Gly missense NM_001407630.1:c.4028A>G NP_001394559.1:p.Asp1343Gly missense NM_001407631.1:c.4028A>G NP_001394560.1:p.Asp1343Gly missense NM_001407632.1:c.4028A>G NP_001394561.1:p.Asp1343Gly missense NM_001407633.1:c.4028A>G NP_001394562.1:p.Asp1343Gly missense NM_001407634.1:c.4028A>G NP_001394563.1:p.Asp1343Gly missense NM_001407635.1:c.4028A>G NP_001394564.1:p.Asp1343Gly missense NM_001407636.1:c.4028A>G NP_001394565.1:p.Asp1343Gly missense NM_001407637.1:c.4028A>G NP_001394566.1:p.Asp1343Gly missense NM_001407638.1:c.4028A>G NP_001394567.1:p.Asp1343Gly missense NM_001407639.1:c.4031A>G NP_001394568.1:p.Asp1344Gly missense NM_001407640.1:c.4031A>G NP_001394569.1:p.Asp1344Gly missense NM_001407641.1:c.4031A>G NP_001394570.1:p.Asp1344Gly missense NM_001407642.1:c.4031A>G NP_001394571.1:p.Asp1344Gly missense NM_001407644.1:c.4028A>G NP_001394573.1:p.Asp1343Gly missense NM_001407645.1:c.4028A>G NP_001394574.1:p.Asp1343Gly missense NM_001407646.1:c.4022A>G NP_001394575.1:p.Asp1341Gly missense NM_001407647.1:c.4022A>G NP_001394576.1:p.Asp1341Gly missense NM_001407648.1:c.3908A>G NP_001394577.1:p.Asp1303Gly missense NM_001407649.1:c.3905A>G NP_001394578.1:p.Asp1302Gly missense NM_001407652.1:c.4031A>G NP_001394581.1:p.Asp1344Gly missense NM_001407653.1:c.3953A>G NP_001394582.1:p.Asp1318Gly missense NM_001407654.1:c.3953A>G NP_001394583.1:p.Asp1318Gly missense NM_001407655.1:c.3953A>G NP_001394584.1:p.Asp1318Gly missense NM_001407656.1:c.3953A>G NP_001394585.1:p.Asp1318Gly missense NM_001407657.1:c.3953A>G NP_001394586.1:p.Asp1318Gly missense NM_001407658.1:c.3953A>G NP_001394587.1:p.Asp1318Gly missense NM_001407659.1:c.3950A>G NP_001394588.1:p.Asp1317Gly missense NM_001407660.1:c.3950A>G NP_001394589.1:p.Asp1317Gly missense NM_001407661.1:c.3950A>G NP_001394590.1:p.Asp1317Gly missense NM_001407662.1:c.3950A>G NP_001394591.1:p.Asp1317Gly missense NM_001407663.1:c.3953A>G NP_001394592.1:p.Asp1318Gly missense NM_001407664.1:c.3908A>G NP_001394593.1:p.Asp1303Gly missense NM_001407665.1:c.3908A>G NP_001394594.1:p.Asp1303Gly missense NM_001407666.1:c.3908A>G NP_001394595.1:p.Asp1303Gly missense NM_001407667.1:c.3908A>G NP_001394596.1:p.Asp1303Gly missense NM_001407668.1:c.3908A>G NP_001394597.1:p.Asp1303Gly missense NM_001407669.1:c.3908A>G NP_001394598.1:p.Asp1303Gly missense NM_001407670.1:c.3905A>G NP_001394599.1:p.Asp1302Gly missense NM_001407671.1:c.3905A>G NP_001394600.1:p.Asp1302Gly missense NM_001407672.1:c.3905A>G NP_001394601.1:p.Asp1302Gly missense NM_001407673.1:c.3905A>G NP_001394602.1:p.Asp1302Gly missense NM_001407674.1:c.3908A>G NP_001394603.1:p.Asp1303Gly missense NM_001407675.1:c.3908A>G NP_001394604.1:p.Asp1303Gly missense NM_001407676.1:c.3908A>G NP_001394605.1:p.Asp1303Gly missense NM_001407677.1:c.3908A>G NP_001394606.1:p.Asp1303Gly missense NM_001407678.1:c.3908A>G NP_001394607.1:p.Asp1303Gly missense NM_001407679.1:c.3908A>G NP_001394608.1:p.Asp1303Gly missense NM_001407680.1:c.3908A>G NP_001394609.1:p.Asp1303Gly missense NM_001407681.1:c.3908A>G NP_001394610.1:p.Asp1303Gly missense NM_001407682.1:c.3908A>G NP_001394611.1:p.Asp1303Gly missense NM_001407683.1:c.3908A>G NP_001394612.1:p.Asp1303Gly missense NM_001407684.1:c.4031A>G NP_001394613.1:p.Asp1344Gly missense NM_001407685.1:c.3905A>G NP_001394614.1:p.Asp1302Gly missense NM_001407686.1:c.3905A>G NP_001394615.1:p.Asp1302Gly missense NM_001407687.1:c.3905A>G NP_001394616.1:p.Asp1302Gly missense NM_001407688.1:c.3905A>G NP_001394617.1:p.Asp1302Gly missense NM_001407689.1:c.3905A>G NP_001394618.1:p.Asp1302Gly missense NM_001407690.1:c.3905A>G NP_001394619.1:p.Asp1302Gly missense NM_001407691.1:c.3905A>G NP_001394620.1:p.Asp1302Gly missense NM_001407692.1:c.3890A>G NP_001394621.1:p.Asp1297Gly missense NM_001407694.1:c.3890A>G NP_001394623.1:p.Asp1297Gly missense NM_001407695.1:c.3890A>G NP_001394624.1:p.Asp1297Gly missense NM_001407696.1:c.3890A>G NP_001394625.1:p.Asp1297Gly missense NM_001407697.1:c.3890A>G NP_001394626.1:p.Asp1297Gly missense NM_001407698.1:c.3890A>G NP_001394627.1:p.Asp1297Gly missense NM_001407724.1:c.3890A>G NP_001394653.1:p.Asp1297Gly missense NM_001407725.1:c.3890A>G NP_001394654.1:p.Asp1297Gly missense NM_001407726.1:c.3890A>G NP_001394655.1:p.Asp1297Gly missense NM_001407727.1:c.3890A>G NP_001394656.1:p.Asp1297Gly missense NM_001407728.1:c.3890A>G NP_001394657.1:p.Asp1297Gly missense NM_001407729.1:c.3890A>G NP_001394658.1:p.Asp1297Gly missense NM_001407730.1:c.3890A>G NP_001394659.1:p.Asp1297Gly missense NM_001407731.1:c.3890A>G NP_001394660.1:p.Asp1297Gly missense NM_001407732.1:c.3890A>G NP_001394661.1:p.Asp1297Gly missense NM_001407733.1:c.3890A>G NP_001394662.1:p.Asp1297Gly missense NM_001407734.1:c.3890A>G NP_001394663.1:p.Asp1297Gly missense NM_001407735.1:c.3890A>G NP_001394664.1:p.Asp1297Gly missense NM_001407736.1:c.3890A>G NP_001394665.1:p.Asp1297Gly missense NM_001407737.1:c.3890A>G NP_001394666.1:p.Asp1297Gly missense NM_001407738.1:c.3890A>G NP_001394667.1:p.Asp1297Gly missense NM_001407739.1:c.3890A>G NP_001394668.1:p.Asp1297Gly missense NM_001407740.1:c.3887A>G NP_001394669.1:p.Asp1296Gly missense NM_001407741.1:c.3887A>G NP_001394670.1:p.Asp1296Gly missense NM_001407742.1:c.3887A>G NP_001394671.1:p.Asp1296Gly missense NM_001407743.1:c.3887A>G NP_001394672.1:p.Asp1296Gly missense NM_001407744.1:c.3887A>G NP_001394673.1:p.Asp1296Gly missense NM_001407745.1:c.3887A>G NP_001394674.1:p.Asp1296Gly missense NM_001407746.1:c.3887A>G NP_001394675.1:p.Asp1296Gly missense NM_001407747.1:c.3887A>G NP_001394676.1:p.Asp1296Gly missense NM_001407748.1:c.3887A>G NP_001394677.1:p.Asp1296Gly missense NM_001407749.1:c.3887A>G NP_001394678.1:p.Asp1296Gly missense NM_001407750.1:c.3890A>G NP_001394679.1:p.Asp1297Gly missense NM_001407751.1:c.3890A>G NP_001394680.1:p.Asp1297Gly missense NM_001407752.1:c.3890A>G NP_001394681.1:p.Asp1297Gly missense NM_001407838.1:c.3887A>G NP_001394767.1:p.Asp1296Gly missense NM_001407839.1:c.3887A>G NP_001394768.1:p.Asp1296Gly missense NM_001407841.1:c.3887A>G NP_001394770.1:p.Asp1296Gly missense NM_001407842.1:c.3887A>G NP_001394771.1:p.Asp1296Gly missense NM_001407843.1:c.3887A>G NP_001394772.1:p.Asp1296Gly missense NM_001407844.1:c.3887A>G NP_001394773.1:p.Asp1296Gly missense NM_001407845.1:c.3887A>G NP_001394774.1:p.Asp1296Gly missense NM_001407846.1:c.3887A>G NP_001394775.1:p.Asp1296Gly missense NM_001407847.1:c.3887A>G NP_001394776.1:p.Asp1296Gly missense NM_001407848.1:c.3887A>G NP_001394777.1:p.Asp1296Gly missense NM_001407849.1:c.3887A>G NP_001394778.1:p.Asp1296Gly missense NM_001407850.1:c.3890A>G NP_001394779.1:p.Asp1297Gly missense NM_001407851.1:c.3890A>G NP_001394780.1:p.Asp1297Gly missense NM_001407852.1:c.3890A>G NP_001394781.1:p.Asp1297Gly missense NM_001407853.1:c.3818A>G NP_001394782.1:p.Asp1273Gly missense NM_001407854.1:c.4031A>G NP_001394783.1:p.Asp1344Gly missense NM_001407858.1:c.4031A>G NP_001394787.1:p.Asp1344Gly missense NM_001407859.1:c.4031A>G NP_001394788.1:p.Asp1344Gly missense NM_001407860.1:c.4028A>G NP_001394789.1:p.Asp1343Gly missense NM_001407861.1:c.4028A>G NP_001394790.1:p.Asp1343Gly missense NM_001407862.1:c.3830A>G NP_001394791.1:p.Asp1277Gly missense NM_001407863.1:c.3908A>G NP_001394792.1:p.Asp1303Gly missense NM_001407874.1:c.3827A>G NP_001394803.1:p.Asp1276Gly missense NM_001407875.1:c.3827A>G NP_001394804.1:p.Asp1276Gly missense NM_001407879.1:c.3821A>G NP_001394808.1:p.Asp1274Gly missense NM_001407881.1:c.3821A>G NP_001394810.1:p.Asp1274Gly missense NM_001407882.1:c.3821A>G NP_001394811.1:p.Asp1274Gly missense NM_001407884.1:c.3821A>G NP_001394813.1:p.Asp1274Gly missense NM_001407885.1:c.3821A>G NP_001394814.1:p.Asp1274Gly missense NM_001407886.1:c.3821A>G NP_001394815.1:p.Asp1274Gly missense NM_001407887.1:c.3821A>G NP_001394816.1:p.Asp1274Gly missense NM_001407889.1:c.3821A>G NP_001394818.1:p.Asp1274Gly missense NM_001407894.1:c.3818A>G NP_001394823.1:p.Asp1273Gly missense NM_001407895.1:c.3818A>G NP_001394824.1:p.Asp1273Gly missense NM_001407896.1:c.3818A>G NP_001394825.1:p.Asp1273Gly missense NM_001407897.1:c.3818A>G NP_001394826.1:p.Asp1273Gly missense NM_001407898.1:c.3818A>G NP_001394827.1:p.Asp1273Gly missense NM_001407899.1:c.3818A>G NP_001394828.1:p.Asp1273Gly missense NM_001407900.1:c.3821A>G NP_001394829.1:p.Asp1274Gly missense NM_001407902.1:c.3821A>G NP_001394831.1:p.Asp1274Gly missense NM_001407904.1:c.3821A>G NP_001394833.1:p.Asp1274Gly missense NM_001407906.1:c.3821A>G NP_001394835.1:p.Asp1274Gly missense NM_001407907.1:c.3821A>G NP_001394836.1:p.Asp1274Gly missense NM_001407908.1:c.3821A>G NP_001394837.1:p.Asp1274Gly missense NM_001407909.1:c.3821A>G NP_001394838.1:p.Asp1274Gly missense NM_001407910.1:c.3821A>G NP_001394839.1:p.Asp1274Gly missense NM_001407915.1:c.3818A>G NP_001394844.1:p.Asp1273Gly missense NM_001407916.1:c.3818A>G NP_001394845.1:p.Asp1273Gly missense NM_001407917.1:c.3818A>G NP_001394846.1:p.Asp1273Gly missense NM_001407918.1:c.3818A>G NP_001394847.1:p.Asp1273Gly missense NM_001407919.1:c.3908A>G NP_001394848.1:p.Asp1303Gly missense NM_001407920.1:c.3767A>G NP_001394849.1:p.Asp1256Gly missense NM_001407921.1:c.3767A>G NP_001394850.1:p.Asp1256Gly missense NM_001407922.1:c.3767A>G NP_001394851.1:p.Asp1256Gly missense NM_001407923.1:c.3767A>G NP_001394852.1:p.Asp1256Gly missense NM_001407924.1:c.3767A>G NP_001394853.1:p.Asp1256Gly missense NM_001407925.1:c.3767A>G NP_001394854.1:p.Asp1256Gly missense NM_001407926.1:c.3767A>G NP_001394855.1:p.Asp1256Gly missense NM_001407927.1:c.3767A>G NP_001394856.1:p.Asp1256Gly missense NM_001407928.1:c.3767A>G NP_001394857.1:p.Asp1256Gly missense NM_001407929.1:c.3767A>G NP_001394858.1:p.Asp1256Gly missense NM_001407930.1:c.3764A>G NP_001394859.1:p.Asp1255Gly missense NM_001407931.1:c.3764A>G NP_001394860.1:p.Asp1255Gly missense NM_001407932.1:c.3764A>G NP_001394861.1:p.Asp1255Gly missense NM_001407933.1:c.3767A>G NP_001394862.1:p.Asp1256Gly missense NM_001407934.1:c.3764A>G NP_001394863.1:p.Asp1255Gly missense NM_001407935.1:c.3767A>G NP_001394864.1:p.Asp1256Gly missense NM_001407936.1:c.3764A>G NP_001394865.1:p.Asp1255Gly missense NM_001407937.1:c.3908A>G NP_001394866.1:p.Asp1303Gly missense NM_001407938.1:c.3908A>G NP_001394867.1:p.Asp1303Gly missense NM_001407939.1:c.3908A>G NP_001394868.1:p.Asp1303Gly missense NM_001407940.1:c.3905A>G NP_001394869.1:p.Asp1302Gly missense NM_001407941.1:c.3905A>G NP_001394870.1:p.Asp1302Gly missense NM_001407942.1:c.3890A>G NP_001394871.1:p.Asp1297Gly missense NM_001407943.1:c.3887A>G NP_001394872.1:p.Asp1296Gly missense NM_001407944.1:c.3890A>G NP_001394873.1:p.Asp1297Gly missense NM_001407945.1:c.3890A>G NP_001394874.1:p.Asp1297Gly missense NM_001407946.1:c.3698A>G NP_001394875.1:p.Asp1233Gly missense NM_001407947.1:c.3698A>G NP_001394876.1:p.Asp1233Gly missense NM_001407948.1:c.3698A>G NP_001394877.1:p.Asp1233Gly missense NM_001407949.1:c.3698A>G NP_001394878.1:p.Asp1233Gly missense NM_001407950.1:c.3698A>G NP_001394879.1:p.Asp1233Gly missense NM_001407951.1:c.3698A>G NP_001394880.1:p.Asp1233Gly missense NM_001407952.1:c.3698A>G NP_001394881.1:p.Asp1233Gly missense NM_001407953.1:c.3698A>G NP_001394882.1:p.Asp1233Gly missense NM_001407954.1:c.3695A>G NP_001394883.1:p.Asp1232Gly missense NM_001407955.1:c.3695A>G NP_001394884.1:p.Asp1232Gly missense NM_001407956.1:c.3695A>G NP_001394885.1:p.Asp1232Gly missense NM_001407957.1:c.3698A>G NP_001394886.1:p.Asp1233Gly missense NM_001407958.1:c.3695A>G NP_001394887.1:p.Asp1232Gly missense NM_001407959.1:c.3650A>G NP_001394888.1:p.Asp1217Gly missense NM_001407960.1:c.3650A>G NP_001394889.1:p.Asp1217Gly missense NM_001407962.1:c.3647A>G NP_001394891.1:p.Asp1216Gly missense NM_001407963.1:c.3650A>G NP_001394892.1:p.Asp1217Gly missense NM_001407964.1:c.3887A>G NP_001394893.1:p.Asp1296Gly missense NM_001407965.1:c.3527A>G NP_001394894.1:p.Asp1176Gly missense NM_001407966.1:c.3143A>G NP_001394895.1:p.Asp1048Gly missense NM_001407967.1:c.3143A>G NP_001394896.1:p.Asp1048Gly missense NM_001407968.1:c.1427A>G NP_001394897.1:p.Asp476Gly missense NM_001407969.1:c.1427A>G NP_001394898.1:p.Asp476Gly missense NM_001407970.1:c.788-468A>G intron variant NM_001407971.1:c.788-468A>G intron variant NM_001407972.1:c.785-468A>G intron variant NM_001407973.1:c.788-468A>G intron variant NM_001407974.1:c.788-468A>G intron variant NM_001407975.1:c.788-468A>G intron variant NM_001407976.1:c.788-468A>G intron variant NM_001407977.1:c.788-468A>G intron variant NM_001407978.1:c.788-468A>G intron variant NM_001407979.1:c.788-468A>G intron variant NM_001407980.1:c.788-468A>G intron variant NM_001407981.1:c.788-468A>G intron variant NM_001407982.1:c.788-468A>G intron variant NM_001407983.1:c.788-468A>G intron variant NM_001407984.1:c.785-468A>G intron variant NM_001407985.1:c.785-468A>G intron variant NM_001407986.1:c.785-468A>G intron variant NM_001407990.1:c.788-468A>G intron variant NM_001407991.1:c.785-468A>G intron variant NM_001407992.1:c.785-468A>G intron variant NM_001407993.1:c.788-468A>G intron variant NM_001408392.1:c.785-468A>G intron variant NM_001408396.1:c.785-468A>G intron variant NM_001408397.1:c.785-468A>G intron variant NM_001408398.1:c.785-468A>G intron variant NM_001408399.1:c.785-468A>G intron variant NM_001408400.1:c.785-468A>G intron variant NM_001408401.1:c.785-468A>G intron variant NM_001408402.1:c.785-468A>G intron variant NM_001408403.1:c.788-468A>G intron variant NM_001408404.1:c.788-468A>G intron variant NM_001408406.1:c.791-477A>G intron variant NM_001408407.1:c.785-468A>G intron variant NM_001408408.1:c.779-468A>G intron variant NM_001408409.1:c.710-468A>G intron variant NM_001408410.1:c.647-468A>G intron variant NM_001408411.1:c.710-468A>G intron variant NM_001408412.1:c.710-468A>G intron variant NM_001408413.1:c.707-468A>G intron variant NM_001408414.1:c.710-468A>G intron variant NM_001408415.1:c.710-468A>G intron variant NM_001408416.1:c.707-468A>G intron variant NM_001408418.1:c.671-468A>G intron variant NM_001408419.1:c.671-468A>G intron variant NM_001408420.1:c.671-468A>G intron variant NM_001408421.1:c.668-468A>G intron variant NM_001408422.1:c.671-468A>G intron variant NM_001408423.1:c.671-468A>G intron variant NM_001408424.1:c.668-468A>G intron variant NM_001408425.1:c.665-468A>G intron variant NM_001408426.1:c.665-468A>G intron variant NM_001408427.1:c.665-468A>G intron variant NM_001408428.1:c.665-468A>G intron variant NM_001408429.1:c.665-468A>G intron variant NM_001408430.1:c.665-468A>G intron variant NM_001408431.1:c.668-468A>G intron variant NM_001408432.1:c.662-468A>G intron variant NM_001408433.1:c.662-468A>G intron variant NM_001408434.1:c.662-468A>G intron variant NM_001408435.1:c.662-468A>G intron variant NM_001408436.1:c.665-468A>G intron variant NM_001408437.1:c.665-468A>G intron variant NM_001408438.1:c.665-468A>G intron variant NM_001408439.1:c.665-468A>G intron variant NM_001408440.1:c.665-468A>G intron variant NM_001408441.1:c.665-468A>G intron variant NM_001408442.1:c.665-468A>G intron variant NM_001408443.1:c.665-468A>G intron variant NM_001408444.1:c.665-468A>G intron variant NM_001408445.1:c.662-468A>G intron variant NM_001408446.1:c.662-468A>G intron variant NM_001408447.1:c.662-468A>G intron variant NM_001408448.1:c.662-468A>G intron variant NM_001408450.1:c.662-468A>G intron variant NM_001408451.1:c.653-468A>G intron variant NM_001408452.1:c.647-468A>G intron variant NM_001408453.1:c.647-468A>G intron variant NM_001408454.1:c.647-468A>G intron variant NM_001408455.1:c.647-468A>G intron variant NM_001408456.1:c.647-468A>G intron variant NM_001408457.1:c.647-468A>G intron variant NM_001408458.1:c.647-468A>G intron variant NM_001408459.1:c.647-468A>G intron variant NM_001408460.1:c.647-468A>G intron variant NM_001408461.1:c.647-468A>G intron variant NM_001408462.1:c.644-468A>G intron variant NM_001408463.1:c.644-468A>G intron variant NM_001408464.1:c.644-468A>G intron variant NM_001408465.1:c.644-468A>G intron variant NM_001408466.1:c.647-468A>G intron variant NM_001408467.1:c.647-468A>G intron variant NM_001408468.1:c.644-468A>G intron variant NM_001408469.1:c.647-468A>G intron variant NM_001408470.1:c.644-468A>G intron variant NM_001408472.1:c.788-468A>G intron variant NM_001408473.1:c.785-468A>G intron variant NM_001408474.1:c.587-468A>G intron variant NM_001408475.1:c.584-468A>G intron variant NM_001408476.1:c.587-468A>G intron variant NM_001408478.1:c.578-468A>G intron variant NM_001408479.1:c.578-468A>G intron variant NM_001408480.1:c.578-468A>G intron variant NM_001408481.1:c.578-468A>G intron variant NM_001408482.1:c.578-468A>G intron variant NM_001408483.1:c.578-468A>G intron variant NM_001408484.1:c.578-468A>G intron variant NM_001408485.1:c.578-468A>G intron variant NM_001408489.1:c.578-468A>G intron variant NM_001408490.1:c.575-468A>G intron variant NM_001408491.1:c.575-468A>G intron variant NM_001408492.1:c.578-468A>G intron variant NM_001408493.1:c.575-468A>G intron variant NM_001408494.1:c.548-468A>G intron variant NM_001408495.1:c.545-468A>G intron variant NM_001408496.1:c.524-468A>G intron variant NM_001408497.1:c.524-468A>G intron variant NM_001408498.1:c.524-468A>G intron variant NM_001408499.1:c.524-468A>G intron variant NM_001408500.1:c.524-468A>G intron variant NM_001408501.1:c.524-468A>G intron variant NM_001408502.1:c.455-468A>G intron variant NM_001408503.1:c.521-468A>G intron variant NM_001408504.1:c.521-468A>G intron variant NM_001408505.1:c.521-468A>G intron variant NM_001408506.1:c.461-468A>G intron variant NM_001408507.1:c.461-468A>G intron variant NM_001408508.1:c.452-468A>G intron variant NM_001408509.1:c.452-468A>G intron variant NM_001408510.1:c.407-468A>G intron variant NM_001408511.1:c.404-468A>G intron variant NM_001408512.1:c.284-468A>G intron variant NM_001408513.1:c.578-468A>G intron variant NM_001408514.1:c.578-468A>G intron variant NM_007297.4:c.3890A>G NP_009228.2:p.Asp1297Gly missense NM_007298.4:c.788-468A>G intron variant NM_007299.4:c.788-468A>G intron variant NM_007300.4:c.4031A>G NP_009231.2:p.Asp1344Gly missense NR_027676.1:n.4167A>G NC_000017.11:g.43091500T>C NC_000017.10:g.41243517T>C NG_005905.2:g.126484A>G NG_087068.1:g.482T>C LRG_292:g.126484A>G LRG_292t1:c.4031A>G LRG_292p1:p.Asp1344Gly U14680.1:n.4150A>G - Protein change
- D1344G, D1297G, D1277G, D1296G, D1176G, D1233G, D1255G, D1256G, D1273G, D1276G, D1317G, D1048G, D1303G, D1343G, D476G, D1216G, D1217G, D1232G, D1274G, D1302G, D1318G, D1341G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091499:T:C
-
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.
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
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 | ||
---|---|---|---|---|---|---|
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 |
12880 | 14665 | |
LOC126862571 | - | - | - | GRCh38 | - | 1637 |
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 benign (1) |
criteria provided, single submitter
|
Sep 17, 2023 | RCV000048411.21 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
|
May 15, 2023 | RCV000112227.12 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000132350.24 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Aug 28, 2023 | RCV000586179.16 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jan 29, 2024 | RCV003987342.1 |
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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Likely benign
(Apr 22, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000293466.10
First in ClinVar: Jul 24, 2016 Last updated: Apr 17, 2019 |
Comment:
This variant is associated with the following publications: (PMID: 15172753, 16267036, 29335924, 27882536, 22655046, 33087888)
|
|
Uncertain significance
(Jan 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683144.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces aspartic acid with glycine at codon 1344 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein … (more)
This missense variant replaces aspartic acid with glycine at codon 1344 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least three individuals affected with breast or ovarian cancer and one unaffected individual (PMID: 15172753, 22655046, 33471991; Leiden Open Variation Database DB-ID BRCA1_005338). This variant also has been reported with a family history likelihood ratio for pathogenicity of 0.2217 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Jan 29, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699098.2
First in ClinVar: Mar 17, 2018 Last updated: Mar 30, 2024 |
Comment:
Variant summary: BRCA1 c.4031A>G (p.Asp1344Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.4031A>G (p.Asp1344Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.5e-06 in 1613526 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4031A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Hadjisavvas_2004, Judkins_2005, Vaca-Paniagua_2012, Loizidou_2017, Jakimovska_2018). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. One co-occurrence with another pathogenic variant has been reported (BRCA2 c.7879A>T, p.Ile2627Phe), providing supporting evidence for a benign role (Jakimovska_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 15172753, 29335924, 16267036, 27882536, 33087888, 23704879, 22655046). ClinVar contains an entry for this variant (Variation ID: 55077). Based on the evidence outlined above, the variant was classified as VUS-possibly benign. (less)
|
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Uncertain significance
(Jan 18, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000785945.2
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
|
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Uncertain significance
(Aug 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470172.2
First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024 |
Comment:
In the published literature, this variant has been reported in multiple individuals with hereditary breast/ovarian cancer (PMIDs: 15172753 (2004), 16267036 (2005), 22655046 (2012), 26287763 (2015), … (more)
In the published literature, this variant has been reported in multiple individuals with hereditary breast/ovarian cancer (PMIDs: 15172753 (2004), 16267036 (2005), 22655046 (2012), 26287763 (2015), and 27882536 (2016)). It was also seen in two individuals with breast cancer as well as in a control individual in a large scale breast cancer association study (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/BRCA1)). The variant has been described as likely benign in a recent multifactorial likelihood study (PMID: 31131967 (2019)), and was reported to co-occur with a pathogenic BRCA2 variant (PMID: 29335924 (2018)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
|
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Likely benign
(Sep 17, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076424.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
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Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003848744.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
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Uncertain Significance
(May 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817722.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This missense variant replaces aspartic acid with glycine at codon 1344 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein … (more)
This missense variant replaces aspartic acid with glycine at codon 1344 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least three individuals affected with breast or ovarian cancer and one unaffected individual (PMID: 15172753, 22655046, 33471991; Leiden Open Variation Database DB-ID BRCA1_005338). This variant also has been reported with a family history likelihood ratio for pathogenicity of 0.2217 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 1
|
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Uncertain significance
(Jan 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000187439.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.D1344G variant (also known as c.4031A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.D1344G variant (also known as c.4031A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4031. The aspartic acid at codon 1344 is replaced by glycine, an amino acid with similar properties. In a study of 40 Cypriot families with breast and/or ovarian cancer, this variant was detected in one family and was not seen in controls (Hadjisavvas A et al. Cancer Genet. Cytogenet. 2004 Jun; 151(2):152-6). This alteration co-occurred with BRCA2 c.7879A>T in a Macednonian individual affected with breast cancer (Jakimovska M et al. Breast Cancer Res. Treat., 2018 Apr;168:745-753). This alteration also co-occurred with a BRCA1 c.442-34C>T variant in a male patient diagnosed with breast cancer (Vaca-Paniagua F et al. PLoS ONE, 2012 May;7:e37432). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144937.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
|
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
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance. | Lyra PCM Jr | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 | PMID: 33087888 |
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia. | Jakimovska M | Breast cancer research and treatment | 2018 | PMID: 29335924 |
BRCA1 and BRCA2 mutation testing in Cyprus; a population based study. | Loizidou MA | Clinical genetics | 2017 | PMID: 27882536 |
A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. | Pal T | Cancer | 2015 | PMID: 26287763 |
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. | Tram E | PloS one | 2013 | PMID: 23704879 |
Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer. | Vaca-Paniagua F | PloS one | 2012 | PMID: 22655046 |
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. | Mucaki EJ | Human mutation | 2011 | PMID: 21523855 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. | Hadjisavvas A | Cancer genetics and cytogenetics | 2004 | PMID: 15172753 |
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Text-mined citations for rs55639854 ...
HelpRecord last updated May 12, 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.