ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)
Variation ID: 17676 Accession: VCV000017676.59
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082434 (GRCh38) [ NCBI UCSC ] 17: 41234451 (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 Oct 8, 2024 Jun 18, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4327C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1443Gly missense NM_001407571.1:c.4114C>G NP_001394500.1:p.Arg1372Gly missense NM_001407581.1:c.4327C>G NP_001394510.1:p.Arg1443Gly missense NM_001407582.1:c.4327C>G NP_001394511.1:p.Arg1443Gly missense NM_001407583.1:c.4327C>G NP_001394512.1:p.Arg1443Gly missense NM_001407585.1:c.4327C>G NP_001394514.1:p.Arg1443Gly missense NM_001407587.1:c.4324C>G NP_001394516.1:p.Arg1442Gly missense NM_001407590.1:c.4324C>G NP_001394519.1:p.Arg1442Gly missense NM_001407591.1:c.4324C>G NP_001394520.1:p.Arg1442Gly missense NM_001407593.1:c.4327C>G NP_001394522.1:p.Arg1443Gly missense NM_001407594.1:c.4327C>G NP_001394523.1:p.Arg1443Gly missense NM_001407596.1:c.4327C>G NP_001394525.1:p.Arg1443Gly missense NM_001407597.1:c.4327C>G NP_001394526.1:p.Arg1443Gly missense NM_001407598.1:c.4327C>G NP_001394527.1:p.Arg1443Gly missense NM_001407602.1:c.4327C>G NP_001394531.1:p.Arg1443Gly missense NM_001407603.1:c.4327C>G NP_001394532.1:p.Arg1443Gly missense NM_001407605.1:c.4327C>G NP_001394534.1:p.Arg1443Gly missense NM_001407610.1:c.4324C>G NP_001394539.1:p.Arg1442Gly missense NM_001407611.1:c.4324C>G NP_001394540.1:p.Arg1442Gly missense NM_001407612.1:c.4324C>G NP_001394541.1:p.Arg1442Gly missense NM_001407613.1:c.4324C>G NP_001394542.1:p.Arg1442Gly missense NM_001407614.1:c.4324C>G NP_001394543.1:p.Arg1442Gly missense NM_001407615.1:c.4324C>G NP_001394544.1:p.Arg1442Gly missense NM_001407616.1:c.4327C>G NP_001394545.1:p.Arg1443Gly missense NM_001407617.1:c.4327C>G NP_001394546.1:p.Arg1443Gly missense NM_001407618.1:c.4327C>G NP_001394547.1:p.Arg1443Gly missense NM_001407619.1:c.4327C>G NP_001394548.1:p.Arg1443Gly missense NM_001407620.1:c.4327C>G NP_001394549.1:p.Arg1443Gly missense NM_001407621.1:c.4327C>G NP_001394550.1:p.Arg1443Gly missense NM_001407622.1:c.4327C>G NP_001394551.1:p.Arg1443Gly missense NM_001407623.1:c.4327C>G NP_001394552.1:p.Arg1443Gly missense NM_001407624.1:c.4324C>G NP_001394553.1:p.Arg1442Gly missense NM_001407625.1:c.4324C>G NP_001394554.1:p.Arg1442Gly missense NM_001407626.1:c.4324C>G NP_001394555.1:p.Arg1442Gly missense NM_001407627.1:c.4321C>G NP_001394556.1:p.Arg1441Gly missense NM_001407628.1:c.4321C>G NP_001394557.1:p.Arg1441Gly missense NM_001407629.1:c.4321C>G NP_001394558.1:p.Arg1441Gly missense NM_001407630.1:c.4321C>G NP_001394559.1:p.Arg1441Gly missense NM_001407631.1:c.4321C>G NP_001394560.1:p.Arg1441Gly missense NM_001407632.1:c.4321C>G NP_001394561.1:p.Arg1441Gly missense NM_001407633.1:c.4324C>G NP_001394562.1:p.Arg1442Gly missense NM_001407634.1:c.4324C>G NP_001394563.1:p.Arg1442Gly missense NM_001407635.1:c.4324C>G NP_001394564.1:p.Arg1442Gly missense NM_001407636.1:c.4324C>G NP_001394565.1:p.Arg1442Gly missense NM_001407637.1:c.4324C>G NP_001394566.1:p.Arg1442Gly missense NM_001407638.1:c.4324C>G NP_001394567.1:p.Arg1442Gly missense NM_001407639.1:c.4324C>G NP_001394568.1:p.Arg1442Gly missense NM_001407640.1:c.4324C>G NP_001394569.1:p.Arg1442Gly missense NM_001407641.1:c.4324C>G NP_001394570.1:p.Arg1442Gly missense NM_001407642.1:c.4324C>G NP_001394571.1:p.Arg1442Gly missense NM_001407644.1:c.4321C>G NP_001394573.1:p.Arg1441Gly missense NM_001407645.1:c.4321C>G NP_001394574.1:p.Arg1441Gly missense NM_001407646.1:c.4315C>G NP_001394575.1:p.Arg1439Gly missense NM_001407647.1:c.4315C>G NP_001394576.1:p.Arg1439Gly missense NM_001407648.1:c.4204C>G NP_001394577.1:p.Arg1402Gly missense NM_001407649.1:c.4201C>G NP_001394578.1:p.Arg1401Gly missense NM_001407652.1:c.4327C>G NP_001394581.1:p.Arg1443Gly missense NM_001407653.1:c.4249C>G NP_001394582.1:p.Arg1417Gly missense NM_001407654.1:c.4249C>G NP_001394583.1:p.Arg1417Gly missense NM_001407655.1:c.4249C>G NP_001394584.1:p.Arg1417Gly missense NM_001407656.1:c.4246C>G NP_001394585.1:p.Arg1416Gly missense NM_001407657.1:c.4249C>G NP_001394586.1:p.Arg1417Gly missense NM_001407658.1:c.4249C>G NP_001394587.1:p.Arg1417Gly missense NM_001407659.1:c.4243C>G NP_001394588.1:p.Arg1415Gly missense NM_001407660.1:c.4243C>G NP_001394589.1:p.Arg1415Gly missense NM_001407661.1:c.4246C>G NP_001394590.1:p.Arg1416Gly missense NM_001407662.1:c.4246C>G NP_001394591.1:p.Arg1416Gly missense NM_001407663.1:c.4246C>G NP_001394592.1:p.Arg1416Gly missense NM_001407664.1:c.4204C>G NP_001394593.1:p.Arg1402Gly missense NM_001407665.1:c.4204C>G NP_001394594.1:p.Arg1402Gly missense NM_001407666.1:c.4204C>G NP_001394595.1:p.Arg1402Gly missense NM_001407667.1:c.4204C>G NP_001394596.1:p.Arg1402Gly missense NM_001407668.1:c.4204C>G NP_001394597.1:p.Arg1402Gly missense NM_001407669.1:c.4204C>G NP_001394598.1:p.Arg1402Gly missense NM_001407670.1:c.4201C>G NP_001394599.1:p.Arg1401Gly missense NM_001407671.1:c.4201C>G NP_001394600.1:p.Arg1401Gly missense NM_001407672.1:c.4201C>G NP_001394601.1:p.Arg1401Gly missense NM_001407673.1:c.4201C>G NP_001394602.1:p.Arg1401Gly missense NM_001407674.1:c.4201C>G NP_001394603.1:p.Arg1401Gly missense NM_001407675.1:c.4201C>G NP_001394604.1:p.Arg1401Gly missense NM_001407676.1:c.4201C>G NP_001394605.1:p.Arg1401Gly missense NM_001407677.1:c.4204C>G NP_001394606.1:p.Arg1402Gly missense NM_001407678.1:c.4204C>G NP_001394607.1:p.Arg1402Gly missense NM_001407679.1:c.4204C>G NP_001394608.1:p.Arg1402Gly missense NM_001407680.1:c.4204C>G NP_001394609.1:p.Arg1402Gly missense NM_001407681.1:c.4201C>G NP_001394610.1:p.Arg1401Gly missense NM_001407682.1:c.4201C>G NP_001394611.1:p.Arg1401Gly missense NM_001407683.1:c.4201C>G NP_001394612.1:p.Arg1401Gly missense NM_001407684.1:c.4327C>G NP_001394613.1:p.Arg1443Gly missense NM_001407685.1:c.4198C>G NP_001394614.1:p.Arg1400Gly missense NM_001407686.1:c.4198C>G NP_001394615.1:p.Arg1400Gly missense NM_001407687.1:c.4198C>G NP_001394616.1:p.Arg1400Gly missense NM_001407688.1:c.4201C>G NP_001394617.1:p.Arg1401Gly missense NM_001407689.1:c.4201C>G NP_001394618.1:p.Arg1401Gly missense NM_001407690.1:c.4198C>G NP_001394619.1:p.Arg1400Gly missense NM_001407691.1:c.4198C>G NP_001394620.1:p.Arg1400Gly missense NM_001407692.1:c.4186C>G NP_001394621.1:p.Arg1396Gly missense NM_001407694.1:c.4186C>G NP_001394623.1:p.Arg1396Gly missense NM_001407695.1:c.4186C>G NP_001394624.1:p.Arg1396Gly missense NM_001407696.1:c.4186C>G NP_001394625.1:p.Arg1396Gly missense NM_001407697.1:c.4186C>G NP_001394626.1:p.Arg1396Gly missense NM_001407698.1:c.4186C>G NP_001394627.1:p.Arg1396Gly missense NM_001407724.1:c.4186C>G NP_001394653.1:p.Arg1396Gly missense NM_001407725.1:c.4186C>G NP_001394654.1:p.Arg1396Gly missense NM_001407726.1:c.4186C>G NP_001394655.1:p.Arg1396Gly missense NM_001407727.1:c.4186C>G NP_001394656.1:p.Arg1396Gly missense NM_001407728.1:c.4186C>G NP_001394657.1:p.Arg1396Gly missense NM_001407729.1:c.4186C>G NP_001394658.1:p.Arg1396Gly missense NM_001407730.1:c.4186C>G NP_001394659.1:p.Arg1396Gly missense NM_001407731.1:c.4186C>G NP_001394660.1:p.Arg1396Gly missense NM_001407732.1:c.4186C>G NP_001394661.1:p.Arg1396Gly missense NM_001407733.1:c.4186C>G NP_001394662.1:p.Arg1396Gly missense NM_001407734.1:c.4186C>G NP_001394663.1:p.Arg1396Gly missense NM_001407735.1:c.4186C>G NP_001394664.1:p.Arg1396Gly missense NM_001407736.1:c.4186C>G NP_001394665.1:p.Arg1396Gly missense NM_001407737.1:c.4186C>G NP_001394666.1:p.Arg1396Gly missense NM_001407738.1:c.4186C>G NP_001394667.1:p.Arg1396Gly missense NM_001407739.1:c.4186C>G NP_001394668.1:p.Arg1396Gly missense NM_001407740.1:c.4183C>G NP_001394669.1:p.Arg1395Gly missense NM_001407741.1:c.4183C>G NP_001394670.1:p.Arg1395Gly missense NM_001407742.1:c.4183C>G NP_001394671.1:p.Arg1395Gly missense NM_001407743.1:c.4183C>G NP_001394672.1:p.Arg1395Gly missense NM_001407744.1:c.4183C>G NP_001394673.1:p.Arg1395Gly missense NM_001407745.1:c.4183C>G NP_001394674.1:p.Arg1395Gly missense NM_001407746.1:c.4183C>G NP_001394675.1:p.Arg1395Gly missense NM_001407747.1:c.4183C>G NP_001394676.1:p.Arg1395Gly missense NM_001407748.1:c.4183C>G NP_001394677.1:p.Arg1395Gly missense NM_001407749.1:c.4183C>G NP_001394678.1:p.Arg1395Gly missense NM_001407750.1:c.4183C>G NP_001394679.1:p.Arg1395Gly missense NM_001407751.1:c.4183C>G NP_001394680.1:p.Arg1395Gly missense NM_001407752.1:c.4183C>G NP_001394681.1:p.Arg1395Gly missense NM_001407838.1:c.4183C>G NP_001394767.1:p.Arg1395Gly missense NM_001407839.1:c.4183C>G NP_001394768.1:p.Arg1395Gly missense NM_001407841.1:c.4183C>G NP_001394770.1:p.Arg1395Gly missense NM_001407842.1:c.4183C>G NP_001394771.1:p.Arg1395Gly missense NM_001407843.1:c.4183C>G NP_001394772.1:p.Arg1395Gly missense NM_001407844.1:c.4183C>G NP_001394773.1:p.Arg1395Gly missense NM_001407845.1:c.4183C>G NP_001394774.1:p.Arg1395Gly missense NM_001407846.1:c.4183C>G NP_001394775.1:p.Arg1395Gly missense NM_001407847.1:c.4180C>G NP_001394776.1:p.Arg1394Gly missense NM_001407848.1:c.4180C>G NP_001394777.1:p.Arg1394Gly missense NM_001407849.1:c.4180C>G NP_001394778.1:p.Arg1394Gly missense NM_001407850.1:c.4183C>G NP_001394779.1:p.Arg1395Gly missense NM_001407851.1:c.4183C>G NP_001394780.1:p.Arg1395Gly missense NM_001407852.1:c.4183C>G NP_001394781.1:p.Arg1395Gly missense NM_001407853.1:c.4114C>G NP_001394782.1:p.Arg1372Gly missense NM_001407854.1:c.4327C>G NP_001394783.1:p.Arg1443Gly missense NM_001407858.1:c.4327C>G NP_001394787.1:p.Arg1443Gly missense NM_001407859.1:c.4327C>G NP_001394788.1:p.Arg1443Gly missense NM_001407860.1:c.4324C>G NP_001394789.1:p.Arg1442Gly missense NM_001407861.1:c.4324C>G NP_001394790.1:p.Arg1442Gly missense NM_001407862.1:c.4126C>G NP_001394791.1:p.Arg1376Gly missense NM_001407863.1:c.4204C>G NP_001394792.1:p.Arg1402Gly missense NM_001407874.1:c.4123C>G NP_001394803.1:p.Arg1375Gly missense NM_001407875.1:c.4123C>G NP_001394804.1:p.Arg1375Gly missense NM_001407879.1:c.4117C>G NP_001394808.1:p.Arg1373Gly missense NM_001407881.1:c.4117C>G NP_001394810.1:p.Arg1373Gly missense NM_001407882.1:c.4117C>G NP_001394811.1:p.Arg1373Gly missense NM_001407884.1:c.4117C>G NP_001394813.1:p.Arg1373Gly missense NM_001407885.1:c.4117C>G NP_001394814.1:p.Arg1373Gly missense NM_001407886.1:c.4117C>G NP_001394815.1:p.Arg1373Gly missense NM_001407887.1:c.4117C>G NP_001394816.1:p.Arg1373Gly missense NM_001407889.1:c.4117C>G NP_001394818.1:p.Arg1373Gly missense NM_001407894.1:c.4114C>G NP_001394823.1:p.Arg1372Gly missense NM_001407895.1:c.4114C>G NP_001394824.1:p.Arg1372Gly missense NM_001407896.1:c.4114C>G NP_001394825.1:p.Arg1372Gly missense NM_001407897.1:c.4114C>G NP_001394826.1:p.Arg1372Gly missense NM_001407898.1:c.4114C>G NP_001394827.1:p.Arg1372Gly missense NM_001407899.1:c.4114C>G NP_001394828.1:p.Arg1372Gly missense NM_001407900.1:c.4117C>G NP_001394829.1:p.Arg1373Gly missense NM_001407902.1:c.4117C>G NP_001394831.1:p.Arg1373Gly missense NM_001407904.1:c.4117C>G NP_001394833.1:p.Arg1373Gly missense NM_001407906.1:c.4117C>G NP_001394835.1:p.Arg1373Gly missense NM_001407907.1:c.4114C>G NP_001394836.1:p.Arg1372Gly missense NM_001407908.1:c.4114C>G NP_001394837.1:p.Arg1372Gly missense NM_001407909.1:c.4114C>G NP_001394838.1:p.Arg1372Gly missense NM_001407910.1:c.4114C>G NP_001394839.1:p.Arg1372Gly missense NM_001407915.1:c.4111C>G NP_001394844.1:p.Arg1371Gly missense NM_001407916.1:c.4114C>G NP_001394845.1:p.Arg1372Gly missense NM_001407917.1:c.4114C>G NP_001394846.1:p.Arg1372Gly missense NM_001407918.1:c.4114C>G NP_001394847.1:p.Arg1372Gly missense NM_001407919.1:c.4204C>G NP_001394848.1:p.Arg1402Gly missense NM_001407920.1:c.4063C>G NP_001394849.1:p.Arg1355Gly missense NM_001407921.1:c.4063C>G NP_001394850.1:p.Arg1355Gly missense NM_001407922.1:c.4063C>G NP_001394851.1:p.Arg1355Gly missense NM_001407923.1:c.4063C>G NP_001394852.1:p.Arg1355Gly missense NM_001407924.1:c.4063C>G NP_001394853.1:p.Arg1355Gly missense NM_001407925.1:c.4063C>G NP_001394854.1:p.Arg1355Gly missense NM_001407926.1:c.4063C>G NP_001394855.1:p.Arg1355Gly missense NM_001407927.1:c.4063C>G NP_001394856.1:p.Arg1355Gly missense NM_001407928.1:c.4063C>G NP_001394857.1:p.Arg1355Gly missense NM_001407929.1:c.4063C>G NP_001394858.1:p.Arg1355Gly missense NM_001407930.1:c.4060C>G NP_001394859.1:p.Arg1354Gly missense NM_001407931.1:c.4060C>G NP_001394860.1:p.Arg1354Gly missense NM_001407932.1:c.4060C>G NP_001394861.1:p.Arg1354Gly missense NM_001407933.1:c.4060C>G NP_001394862.1:p.Arg1354Gly missense NM_001407934.1:c.4057C>G NP_001394863.1:p.Arg1353Gly missense NM_001407935.1:c.4060C>G NP_001394864.1:p.Arg1354Gly missense NM_001407936.1:c.4060C>G NP_001394865.1:p.Arg1354Gly missense NM_001407937.1:c.4204C>G NP_001394866.1:p.Arg1402Gly missense NM_001407938.1:c.4204C>G NP_001394867.1:p.Arg1402Gly missense NM_001407939.1:c.4204C>G NP_001394868.1:p.Arg1402Gly missense NM_001407940.1:c.4201C>G NP_001394869.1:p.Arg1401Gly missense NM_001407941.1:c.4201C>G NP_001394870.1:p.Arg1401Gly missense NM_001407942.1:c.4186C>G NP_001394871.1:p.Arg1396Gly missense NM_001407943.1:c.4183C>G NP_001394872.1:p.Arg1395Gly missense NM_001407944.1:c.4186C>G NP_001394873.1:p.Arg1396Gly missense NM_001407945.1:c.4186C>G NP_001394874.1:p.Arg1396Gly missense NM_001407946.1:c.3994C>G NP_001394875.1:p.Arg1332Gly missense NM_001407947.1:c.3994C>G NP_001394876.1:p.Arg1332Gly missense NM_001407948.1:c.3994C>G NP_001394877.1:p.Arg1332Gly missense NM_001407949.1:c.3994C>G NP_001394878.1:p.Arg1332Gly missense NM_001407950.1:c.3994C>G NP_001394879.1:p.Arg1332Gly missense NM_001407951.1:c.3994C>G NP_001394880.1:p.Arg1332Gly missense NM_001407952.1:c.3991C>G NP_001394881.1:p.Arg1331Gly missense NM_001407953.1:c.3991C>G NP_001394882.1:p.Arg1331Gly missense NM_001407954.1:c.3991C>G NP_001394883.1:p.Arg1331Gly missense NM_001407955.1:c.3991C>G NP_001394884.1:p.Arg1331Gly missense NM_001407956.1:c.3988C>G NP_001394885.1:p.Arg1330Gly missense NM_001407957.1:c.3991C>G NP_001394886.1:p.Arg1331Gly missense NM_001407958.1:c.3991C>G NP_001394887.1:p.Arg1331Gly missense NM_001407959.1:c.3946C>G NP_001394888.1:p.Arg1316Gly missense NM_001407960.1:c.3946C>G NP_001394889.1:p.Arg1316Gly missense NM_001407962.1:c.3943C>G NP_001394891.1:p.Arg1315Gly missense NM_001407963.1:c.3943C>G NP_001394892.1:p.Arg1315Gly missense NM_001407964.1:c.4183C>G NP_001394893.1:p.Arg1395Gly missense NM_001407965.1:c.3820C>G NP_001394894.1:p.Arg1274Gly missense NM_001407966.1:c.3439C>G NP_001394895.1:p.Arg1147Gly missense NM_001407967.1:c.3439C>G NP_001394896.1:p.Arg1147Gly missense NM_001407968.1:c.1723C>G NP_001394897.1:p.Arg575Gly missense NM_001407969.1:c.1720C>G NP_001394898.1:p.Arg574Gly missense NM_001407970.1:c.1018C>G NP_001394899.1:p.Arg340Gly missense NM_001407971.1:c.1018C>G NP_001394900.1:p.Arg340Gly missense NM_001407972.1:c.1015C>G NP_001394901.1:p.Arg339Gly missense NM_001407973.1:c.1018C>G NP_001394902.1:p.Arg340Gly missense NM_001407974.1:c.1018C>G NP_001394903.1:p.Arg340Gly missense NM_001407975.1:c.1018C>G NP_001394904.1:p.Arg340Gly missense NM_001407976.1:c.1018C>G NP_001394905.1:p.Arg340Gly missense NM_001407977.1:c.1018C>G NP_001394906.1:p.Arg340Gly missense NM_001407978.1:c.1018C>G NP_001394907.1:p.Arg340Gly missense NM_001407979.1:c.1015C>G NP_001394908.1:p.Arg339Gly missense NM_001407980.1:c.1015C>G NP_001394909.1:p.Arg339Gly missense NM_001407981.1:c.1015C>G NP_001394910.1:p.Arg339Gly missense NM_001407982.1:c.1015C>G NP_001394911.1:p.Arg339Gly missense NM_001407983.1:c.1015C>G NP_001394912.1:p.Arg339Gly missense NM_001407984.1:c.1015C>G NP_001394913.1:p.Arg339Gly missense NM_001407985.1:c.1015C>G NP_001394914.1:p.Arg339Gly missense NM_001407986.1:c.1015C>G NP_001394915.1:p.Arg339Gly missense NM_001407990.1:c.1015C>G NP_001394919.1:p.Arg339Gly missense NM_001407991.1:c.1015C>G NP_001394920.1:p.Arg339Gly missense NM_001407992.1:c.1015C>G NP_001394921.1:p.Arg339Gly missense NM_001407993.1:c.1018C>G NP_001394922.1:p.Arg340Gly missense NM_001408392.1:c.1015C>G NP_001395321.1:p.Arg339Gly missense NM_001408396.1:c.1015C>G NP_001395325.1:p.Arg339Gly missense NM_001408397.1:c.1015C>G NP_001395326.1:p.Arg339Gly missense NM_001408398.1:c.1015C>G NP_001395327.1:p.Arg339Gly missense NM_001408399.1:c.1015C>G NP_001395328.1:p.Arg339Gly missense NM_001408400.1:c.1012C>G NP_001395329.1:p.Arg338Gly missense NM_001408401.1:c.1012C>G NP_001395330.1:p.Arg338Gly missense NM_001408402.1:c.1012C>G NP_001395331.1:p.Arg338Gly missense NM_001408403.1:c.1015C>G NP_001395332.1:p.Arg339Gly missense NM_001408404.1:c.1015C>G NP_001395333.1:p.Arg339Gly missense NM_001408406.1:c.1009C>G NP_001395335.1:p.Arg337Gly missense NM_001408407.1:c.1012C>G NP_001395336.1:p.Arg338Gly missense NM_001408408.1:c.1009C>G NP_001395337.1:p.Arg337Gly missense NM_001408409.1:c.940C>G NP_001395338.1:p.Arg314Gly missense NM_001408410.1:c.877C>G NP_001395339.1:p.Arg293Gly missense NM_001408411.1:c.940C>G NP_001395340.1:p.Arg314Gly missense NM_001408412.1:c.940C>G NP_001395341.1:p.Arg314Gly missense NM_001408413.1:c.937C>G NP_001395342.1:p.Arg313Gly missense NM_001408414.1:c.940C>G NP_001395343.1:p.Arg314Gly missense NM_001408415.1:c.940C>G NP_001395344.1:p.Arg314Gly missense NM_001408416.1:c.937C>G NP_001395345.1:p.Arg313Gly missense NM_001408418.1:c.901C>G NP_001395347.1:p.Arg301Gly missense NM_001408419.1:c.901C>G NP_001395348.1:p.Arg301Gly missense NM_001408420.1:c.901C>G NP_001395349.1:p.Arg301Gly missense NM_001408421.1:c.898C>G NP_001395350.1:p.Arg300Gly missense NM_001408422.1:c.901C>G NP_001395351.1:p.Arg301Gly missense NM_001408423.1:c.901C>G NP_001395352.1:p.Arg301Gly missense NM_001408424.1:c.898C>G NP_001395353.1:p.Arg300Gly missense NM_001408425.1:c.895C>G NP_001395354.1:p.Arg299Gly missense NM_001408426.1:c.895C>G NP_001395355.1:p.Arg299Gly missense NM_001408427.1:c.895C>G NP_001395356.1:p.Arg299Gly missense NM_001408428.1:c.895C>G NP_001395357.1:p.Arg299Gly missense NM_001408429.1:c.895C>G NP_001395358.1:p.Arg299Gly missense NM_001408430.1:c.895C>G NP_001395359.1:p.Arg299Gly missense NM_001408431.1:c.898C>G NP_001395360.1:p.Arg300Gly missense NM_001408432.1:c.892C>G NP_001395361.1:p.Arg298Gly missense NM_001408433.1:c.892C>G NP_001395362.1:p.Arg298Gly missense NM_001408434.1:c.892C>G NP_001395363.1:p.Arg298Gly missense NM_001408435.1:c.892C>G NP_001395364.1:p.Arg298Gly missense NM_001408436.1:c.895C>G NP_001395365.1:p.Arg299Gly missense NM_001408437.1:c.895C>G NP_001395366.1:p.Arg299Gly missense NM_001408438.1:c.895C>G NP_001395367.1:p.Arg299Gly missense NM_001408439.1:c.895C>G NP_001395368.1:p.Arg299Gly missense NM_001408440.1:c.895C>G NP_001395369.1:p.Arg299Gly missense NM_001408441.1:c.892C>G NP_001395370.1:p.Arg298Gly missense NM_001408442.1:c.892C>G NP_001395371.1:p.Arg298Gly missense NM_001408443.1:c.892C>G NP_001395372.1:p.Arg298Gly missense NM_001408444.1:c.892C>G NP_001395373.1:p.Arg298Gly missense NM_001408445.1:c.892C>G NP_001395374.1:p.Arg298Gly missense NM_001408446.1:c.892C>G NP_001395375.1:p.Arg298Gly missense NM_001408447.1:c.892C>G NP_001395376.1:p.Arg298Gly missense NM_001408448.1:c.892C>G NP_001395377.1:p.Arg298Gly missense NM_001408450.1:c.892C>G NP_001395379.1:p.Arg298Gly missense NM_001408451.1:c.883C>G NP_001395380.1:p.Arg295Gly missense NM_001408452.1:c.877C>G NP_001395381.1:p.Arg293Gly missense NM_001408453.1:c.877C>G NP_001395382.1:p.Arg293Gly missense NM_001408454.1:c.877C>G NP_001395383.1:p.Arg293Gly missense NM_001408455.1:c.877C>G NP_001395384.1:p.Arg293Gly missense NM_001408456.1:c.877C>G NP_001395385.1:p.Arg293Gly missense NM_001408457.1:c.877C>G NP_001395386.1:p.Arg293Gly missense NM_001408458.1:c.877C>G NP_001395387.1:p.Arg293Gly missense NM_001408459.1:c.877C>G NP_001395388.1:p.Arg293Gly missense NM_001408460.1:c.877C>G NP_001395389.1:p.Arg293Gly missense NM_001408461.1:c.877C>G NP_001395390.1:p.Arg293Gly missense NM_001408462.1:c.874C>G NP_001395391.1:p.Arg292Gly missense NM_001408463.1:c.874C>G NP_001395392.1:p.Arg292Gly missense NM_001408464.1:c.874C>G NP_001395393.1:p.Arg292Gly missense NM_001408465.1:c.874C>G NP_001395394.1:p.Arg292Gly missense NM_001408466.1:c.874C>G NP_001395395.1:p.Arg292Gly missense NM_001408467.1:c.874C>G NP_001395396.1:p.Arg292Gly missense NM_001408468.1:c.874C>G NP_001395397.1:p.Arg292Gly missense NM_001408469.1:c.874C>G NP_001395398.1:p.Arg292Gly missense NM_001408470.1:c.871C>G NP_001395399.1:p.Arg291Gly missense NM_001408472.1:c.1015C>G NP_001395401.1:p.Arg339Gly missense NM_001408473.1:c.1015C>G NP_001395402.1:p.Arg339Gly missense NM_001408474.1:c.817C>G NP_001395403.1:p.Arg273Gly missense NM_001408475.1:c.814C>G NP_001395404.1:p.Arg272Gly missense NM_001408476.1:c.817C>G NP_001395405.1:p.Arg273Gly missense NM_001408478.1:c.808C>G NP_001395407.1:p.Arg270Gly missense NM_001408479.1:c.808C>G NP_001395408.1:p.Arg270Gly missense NM_001408480.1:c.808C>G NP_001395409.1:p.Arg270Gly missense NM_001408481.1:c.808C>G NP_001395410.1:p.Arg270Gly missense NM_001408482.1:c.808C>G NP_001395411.1:p.Arg270Gly missense NM_001408483.1:c.808C>G NP_001395412.1:p.Arg270Gly missense NM_001408484.1:c.808C>G NP_001395413.1:p.Arg270Gly missense NM_001408485.1:c.808C>G NP_001395414.1:p.Arg270Gly missense NM_001408489.1:c.805C>G NP_001395418.1:p.Arg269Gly missense NM_001408490.1:c.805C>G NP_001395419.1:p.Arg269Gly missense NM_001408491.1:c.805C>G NP_001395420.1:p.Arg269Gly missense NM_001408492.1:c.805C>G NP_001395421.1:p.Arg269Gly missense NM_001408493.1:c.805C>G NP_001395422.1:p.Arg269Gly missense NM_001408494.1:c.778C>G NP_001395423.1:p.Arg260Gly missense NM_001408495.1:c.775C>G NP_001395424.1:p.Arg259Gly missense NM_001408496.1:c.754C>G NP_001395425.1:p.Arg252Gly missense NM_001408497.1:c.754C>G NP_001395426.1:p.Arg252Gly missense NM_001408498.1:c.754C>G NP_001395427.1:p.Arg252Gly missense NM_001408499.1:c.754C>G NP_001395428.1:p.Arg252Gly missense NM_001408500.1:c.754C>G NP_001395429.1:p.Arg252Gly missense NM_001408501.1:c.754C>G NP_001395430.1:p.Arg252Gly missense NM_001408502.1:c.685C>G NP_001395431.1:p.Arg229Gly missense NM_001408503.1:c.751C>G NP_001395432.1:p.Arg251Gly missense NM_001408504.1:c.751C>G NP_001395433.1:p.Arg251Gly missense NM_001408505.1:c.751C>G NP_001395434.1:p.Arg251Gly missense NM_001408506.1:c.691C>G NP_001395435.1:p.Arg231Gly missense NM_001408507.1:c.688C>G NP_001395436.1:p.Arg230Gly missense NM_001408508.1:c.679C>G NP_001395437.1:p.Arg227Gly missense NM_001408509.1:c.679C>G NP_001395438.1:p.Arg227Gly missense NM_001408510.1:c.637C>G NP_001395439.1:p.Arg213Gly missense NM_001408511.1:c.634C>G NP_001395440.1:p.Arg212Gly missense NM_001408512.1:c.514C>G NP_001395441.1:p.Arg172Gly missense NM_001408513.1:c.805C>G NP_001395442.1:p.Arg269Gly missense NM_001408514.1:c.808C>G NP_001395443.1:p.Arg270Gly missense NM_007297.4:c.4186C>G NP_009228.2:p.Arg1396Gly missense NM_007298.4:c.1018C>G NP_009229.2:p.Arg340Gly missense NM_007299.4:c.1018C>G NP_009230.2:p.Arg340Gly missense NM_007300.4:c.4327C>G NP_009231.2:p.Arg1443Gly missense NM_007304.2:c.1018C>G NP_009235.2:p.Arg340Gly missense NR_027676.2:n.4504C>G non-coding transcript variant NC_000017.11:g.43082434G>C NC_000017.10:g.41234451G>C NG_005905.2:g.135550C>G LRG_292:g.135550C>G LRG_292t1:c.4327C>G LRG_292p1:p.Arg1443Gly P38398:p.Arg1443Gly U14680.1:n.4446C>G - Protein change
- R1443G, R340G, R1396G, R1353G, R1372G, R1395G, R1415G, R1416G, R213G, R229G, R259G, R272G, R299G, R574G, R1315G, R1332G, R1373G, R1375G, R1394G, R1400G, R1402G, R1439G, R212G, R251G, R269G, R270G, R300G, R313G, R338G, R1316G, R1330G, R1331G, R1417G, R1442G, R227G, R252G, R293G, R314G, R339G, R575G, R1147G, R1274G, R1354G, R1355G, R1371G, R1376G, R1401G, R1441G, R172G, R230G, R231G, R260G, R273G, R291G, R292G, R295G, R298G, R301G, R337G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082433:G: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.
Trans-Omics for Precision Medicine (TOPMed) 0.00003
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 |
13037 | 14843 |
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. |
---|---|---|---|---|
Benign (6) |
reviewed by expert panel
|
Jun 18, 2019 | RCV000019245.25 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jul 16, 2024 | RCV000048522.24 | |
Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 14, 2022 | RCV000129043.17 | |
Benign (3) |
criteria provided, single submitter
|
Dec 28, 2020 | RCV000427206.14 | |
Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Jun 28, 2023 | RCV000588512.40 | |
BRCA1-related disorder
|
Likely benign (1) |
no assertion criteria provided
|
Mar 15, 2019 | RCV004554606.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Benign
(Jun 18, 2019)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV001161592.2
First in ClinVar: Feb 16, 2020 Last updated: Jan 07, 2023 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 2.23E-06 (less)
|
|
Uncertain significance
(Nov 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195928.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
|
Likely benign
(Apr 18, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000885070.2
First in ClinVar: Mar 17, 2018 Last updated: Jan 26, 2021 |
|
|
Benign
(Apr 20, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488475.2
First in ClinVar: May 06, 2016 Last updated: Dec 24, 2022 |
|
|
Likely benign
(Jun 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: SCV001133581.4
First in ClinVar: Jan 04, 2020 Last updated: Jan 06, 2024 |
|
|
Benign
(Dec 28, 2020)
|
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: SCV001360565.2
First in ClinVar: Jun 22, 2020 Last updated: Jan 09, 2021 |
Comment:
Variant summary: BRCA1 c.4327C>G (p.Arg1443Gly) 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.4327C>G (p.Arg1443Gly) 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 3.2e-05 in 251364 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance.c.4327C>G has been reported in the literature in individuals affected with Breast and Ovarian Cancer (e.g. Ahmed_2012, Alsop_2012, Castilla_1994, Haffty_2009, Judkins_2005, Trujillano_2014). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported in the BIC and UMD databases respectively (BRCA1 c.3G>T, p.Met1Ile; BRCA1 c.269_281del, p.Ile90SerfsX25), providing supporting evidence for a benign role. Several publications report experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant (Bouwman_2013, Carvalho_2007, Sy_2009, Woods_2016, Fernandes_2019). Nine clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign, n=3, likely benign, n=6, VUS, n=1). Based on the evidence outlined above, to reflect the emerging consensus towards a benign outcome, the variant was classified as benign. (less)
|
|
Likely benign
(Mar 14, 2022)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538286.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
|
Likely benign
(Jan 20, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683171.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
|
Likely benign
(May 08, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000512308.6
First in ClinVar: Mar 08, 2017 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (more)
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 18992264, 25556971, 28781887, 21990134, 7894491, 21447777, 23867111, 25525159, 17308087, 19369211, 26295337, 25652403, 28569743, 30765603, 33087888) (less)
|
|
Benign
(Jan 20, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076535.12
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
Likely benign
(Jan 25, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000172955.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Likely benign
(Jul 16, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV005205786.1
First in ClinVar: Sep 16, 2024 Last updated: Sep 16, 2024 |
|
|
Likely benign
(Jul 01, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV000892186.27
First in ClinVar: Mar 31, 2019 Last updated: Oct 08, 2024 |
Number of individuals with the variant: 1
|
|
Pathogenic
(Dec 01, 1994)
|
no assertion criteria provided
Method: literature only
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000039533.4
First in ClinVar: Apr 04, 2013 Last updated: Mar 25, 2018 |
Comment on evidence:
Castilla et al. (1994) studied 50 probands with a family history of breast and/or ovarian cancer (604370) for germline mutations in the coding region of … (more)
Castilla et al. (1994) studied 50 probands with a family history of breast and/or ovarian cancer (604370) for germline mutations in the coding region of the BRCA1 candidate gene. They identified a C-to-G transition at position 4446, changing arginine-1443 to glycine. (less)
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001977968.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001980596.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
|
|
Likely benign
(Mar 15, 2019)
|
no assertion criteria provided
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004772094.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
|
Uncertain significance
(May 29, 2002)
|
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: SCV000145056.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 5
Observation 2:
Number of individuals with the variant: 2
Geographic origin: Western European
Observation 3:
Number of individuals with the variant: 7
Ethnicity/Population group: Western European
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Native American
|
|
Uncertain significance
(Aug 01, 2016)
|
no assertion criteria provided
Method: research
|
Hereditary breast and ovarian cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: CSER - NEXT Medicine variant annotation
Accession: SCV000503551.1 First in ClinVar: Jul 01, 2016 Last updated: Jul 01, 2016 |
Comment:
Found in a 37 year old female patient having exome sequencing for an unrelated indication. No known history of breast cancer. Family history of a … (more)
Found in a 37 year old female patient having exome sequencing for an unrelated indication. No known history of breast cancer. Family history of a mother with breast ancer diagnosed at 50, a maternal grandmother who died of breast cancer at age 58 and a paternal grandmother diagnosed with breast and ovarian cancer. (less)
|
|
Benign
(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: SCV004243993.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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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 |
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 |
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. | Fernandes VC | The Journal of biological chemistry | 2019 | PMID: 30765603 |
A Bayesian framework for efficient and accurate variant prediction. | Qian D | PloS one | 2018 | PMID: 30212499 |
Sources of discordance among germ-line variant classifications in ClinVar. | Yang S | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28569743 |
Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells. | Syeda MM | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28301456 |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples. | Enyedi MZ | Oncotarget | 2016 | PMID: 27533253 |
Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. | Loke J | Human molecular genetics | 2015 | PMID: 25652403 |
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. | Trujillano D | The Journal of molecular diagnostics : JMD | 2015 | PMID: 25556971 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
A high-throughput functional complementation assay for classification of BRCA1 missense variants. | Bouwman P | Cancer discovery | 2013 | PMID: 23867111 |
A case of synchronous double primary breast carcinoma and osteosarcoma: Mismatch repair genes mutations as a possible cause for multiple early onset malignant tumors. | Ahmed H | The American journal of case reports | 2012 | PMID: 23569533 |
A guide for functional analysis of BRCA1 variants of uncertain significance. | Millot GA | Human mutation | 2012 | PMID: 22753008 |
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. | Alsop K | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2012 | PMID: 22711857 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. | Iversen ES Jr | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2011 | PMID: 21447777 |
Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. | Haffty BG | Annals of oncology : official journal of the European Society for Medical Oncology | 2009 | PMID: 19491284 |
PALB2 is an integral component of the BRCA complex required for homologous recombination repair. | Sy SM | Proceedings of the National Academy of Sciences of the United States of America | 2009 | PMID: 19369211 |
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. | Carvalho M | Mutation research | 2009 | PMID: 18992264 |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. | Carvalho MA | Cancer research | 2007 | PMID: 17308087 |
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 |
Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. | Euhus DM | Journal of the National Cancer Institute | 2002 | PMID: 12048272 |
BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. | Shattuck-Eidens D | JAMA | 1997 | PMID: 9333265 |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. | Castilla LH | Nature genetics | 1994 | PMID: 7894491 |
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Text-mined citations for rs41293455 ...
HelpRecord last updated Oct 13, 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.