ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4205A>G (p.His1402Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4205A>G (p.His1402Arg)
Variation ID: 55141 Accession: VCV000055141.15
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43082556 (GRCh38) [ NCBI UCSC ] 17: 41234573 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 7, 2024 Mar 19, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4205A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1402Arg missense NM_001407571.1:c.3992A>G NP_001394500.1:p.His1331Arg missense NM_001407581.1:c.4205A>G NP_001394510.1:p.His1402Arg missense NM_001407582.1:c.4205A>G NP_001394511.1:p.His1402Arg missense NM_001407583.1:c.4205A>G NP_001394512.1:p.His1402Arg missense NM_001407585.1:c.4205A>G NP_001394514.1:p.His1402Arg missense NM_001407587.1:c.4202A>G NP_001394516.1:p.His1401Arg missense NM_001407590.1:c.4202A>G NP_001394519.1:p.His1401Arg missense NM_001407591.1:c.4202A>G NP_001394520.1:p.His1401Arg missense NM_001407593.1:c.4205A>G NP_001394522.1:p.His1402Arg missense NM_001407594.1:c.4205A>G NP_001394523.1:p.His1402Arg missense NM_001407596.1:c.4205A>G NP_001394525.1:p.His1402Arg missense NM_001407597.1:c.4205A>G NP_001394526.1:p.His1402Arg missense NM_001407598.1:c.4205A>G NP_001394527.1:p.His1402Arg missense NM_001407602.1:c.4205A>G NP_001394531.1:p.His1402Arg missense NM_001407603.1:c.4205A>G NP_001394532.1:p.His1402Arg missense NM_001407605.1:c.4205A>G NP_001394534.1:p.His1402Arg missense NM_001407610.1:c.4202A>G NP_001394539.1:p.His1401Arg missense NM_001407611.1:c.4202A>G NP_001394540.1:p.His1401Arg missense NM_001407612.1:c.4202A>G NP_001394541.1:p.His1401Arg missense NM_001407613.1:c.4202A>G NP_001394542.1:p.His1401Arg missense NM_001407614.1:c.4202A>G NP_001394543.1:p.His1401Arg missense NM_001407615.1:c.4202A>G NP_001394544.1:p.His1401Arg missense NM_001407616.1:c.4205A>G NP_001394545.1:p.His1402Arg missense NM_001407617.1:c.4205A>G NP_001394546.1:p.His1402Arg missense NM_001407618.1:c.4205A>G NP_001394547.1:p.His1402Arg missense NM_001407619.1:c.4205A>G NP_001394548.1:p.His1402Arg missense NM_001407620.1:c.4205A>G NP_001394549.1:p.His1402Arg missense NM_001407621.1:c.4205A>G NP_001394550.1:p.His1402Arg missense NM_001407622.1:c.4205A>G NP_001394551.1:p.His1402Arg missense NM_001407623.1:c.4205A>G NP_001394552.1:p.His1402Arg missense NM_001407624.1:c.4202A>G NP_001394553.1:p.His1401Arg missense NM_001407625.1:c.4202A>G NP_001394554.1:p.His1401Arg missense NM_001407626.1:c.4202A>G NP_001394555.1:p.His1401Arg missense NM_001407627.1:c.4199A>G NP_001394556.1:p.His1400Arg missense NM_001407628.1:c.4199A>G NP_001394557.1:p.His1400Arg missense NM_001407629.1:c.4199A>G NP_001394558.1:p.His1400Arg missense NM_001407630.1:c.4199A>G NP_001394559.1:p.His1400Arg missense NM_001407631.1:c.4199A>G NP_001394560.1:p.His1400Arg missense NM_001407632.1:c.4199A>G NP_001394561.1:p.His1400Arg missense NM_001407633.1:c.4202A>G NP_001394562.1:p.His1401Arg missense NM_001407634.1:c.4202A>G NP_001394563.1:p.His1401Arg missense NM_001407635.1:c.4202A>G NP_001394564.1:p.His1401Arg missense NM_001407636.1:c.4202A>G NP_001394565.1:p.His1401Arg missense NM_001407637.1:c.4202A>G NP_001394566.1:p.His1401Arg missense NM_001407638.1:c.4202A>G NP_001394567.1:p.His1401Arg missense NM_001407639.1:c.4202A>G NP_001394568.1:p.His1401Arg missense NM_001407640.1:c.4202A>G NP_001394569.1:p.His1401Arg missense NM_001407641.1:c.4202A>G NP_001394570.1:p.His1401Arg missense NM_001407642.1:c.4202A>G NP_001394571.1:p.His1401Arg missense NM_001407644.1:c.4199A>G NP_001394573.1:p.His1400Arg missense NM_001407645.1:c.4199A>G NP_001394574.1:p.His1400Arg missense NM_001407646.1:c.4193A>G NP_001394575.1:p.His1398Arg missense NM_001407647.1:c.4193A>G NP_001394576.1:p.His1398Arg missense NM_001407648.1:c.4082A>G NP_001394577.1:p.His1361Arg missense NM_001407649.1:c.4079A>G NP_001394578.1:p.His1360Arg missense NM_001407652.1:c.4205A>G NP_001394581.1:p.His1402Arg missense NM_001407653.1:c.4127A>G NP_001394582.1:p.His1376Arg missense NM_001407654.1:c.4127A>G NP_001394583.1:p.His1376Arg missense NM_001407655.1:c.4127A>G NP_001394584.1:p.His1376Arg missense NM_001407656.1:c.4124A>G NP_001394585.1:p.His1375Arg missense NM_001407657.1:c.4127A>G NP_001394586.1:p.His1376Arg missense NM_001407658.1:c.4127A>G NP_001394587.1:p.His1376Arg missense NM_001407659.1:c.4121A>G NP_001394588.1:p.His1374Arg missense NM_001407660.1:c.4121A>G NP_001394589.1:p.His1374Arg missense NM_001407661.1:c.4124A>G NP_001394590.1:p.His1375Arg missense NM_001407662.1:c.4124A>G NP_001394591.1:p.His1375Arg missense NM_001407663.1:c.4124A>G NP_001394592.1:p.His1375Arg missense NM_001407664.1:c.4082A>G NP_001394593.1:p.His1361Arg missense NM_001407665.1:c.4082A>G NP_001394594.1:p.His1361Arg missense NM_001407666.1:c.4082A>G NP_001394595.1:p.His1361Arg missense NM_001407667.1:c.4082A>G NP_001394596.1:p.His1361Arg missense NM_001407668.1:c.4082A>G NP_001394597.1:p.His1361Arg missense NM_001407669.1:c.4082A>G NP_001394598.1:p.His1361Arg missense NM_001407670.1:c.4079A>G NP_001394599.1:p.His1360Arg missense NM_001407671.1:c.4079A>G NP_001394600.1:p.His1360Arg missense NM_001407672.1:c.4079A>G NP_001394601.1:p.His1360Arg missense NM_001407673.1:c.4079A>G NP_001394602.1:p.His1360Arg missense NM_001407674.1:c.4079A>G NP_001394603.1:p.His1360Arg missense NM_001407675.1:c.4079A>G NP_001394604.1:p.His1360Arg missense NM_001407676.1:c.4079A>G NP_001394605.1:p.His1360Arg missense NM_001407677.1:c.4082A>G NP_001394606.1:p.His1361Arg missense NM_001407678.1:c.4082A>G NP_001394607.1:p.His1361Arg missense NM_001407679.1:c.4082A>G NP_001394608.1:p.His1361Arg missense NM_001407680.1:c.4082A>G NP_001394609.1:p.His1361Arg missense NM_001407681.1:c.4079A>G NP_001394610.1:p.His1360Arg missense NM_001407682.1:c.4079A>G NP_001394611.1:p.His1360Arg missense NM_001407683.1:c.4079A>G NP_001394612.1:p.His1360Arg missense NM_001407684.1:c.4205A>G NP_001394613.1:p.His1402Arg missense NM_001407685.1:c.4076A>G NP_001394614.1:p.His1359Arg missense NM_001407686.1:c.4076A>G NP_001394615.1:p.His1359Arg missense NM_001407687.1:c.4076A>G NP_001394616.1:p.His1359Arg missense NM_001407688.1:c.4079A>G NP_001394617.1:p.His1360Arg missense NM_001407689.1:c.4079A>G NP_001394618.1:p.His1360Arg missense NM_001407690.1:c.4076A>G NP_001394619.1:p.His1359Arg missense NM_001407691.1:c.4076A>G NP_001394620.1:p.His1359Arg missense NM_001407692.1:c.4064A>G NP_001394621.1:p.His1355Arg missense NM_001407694.1:c.4064A>G NP_001394623.1:p.His1355Arg missense NM_001407695.1:c.4064A>G NP_001394624.1:p.His1355Arg missense NM_001407696.1:c.4064A>G NP_001394625.1:p.His1355Arg missense NM_001407697.1:c.4064A>G NP_001394626.1:p.His1355Arg missense NM_001407698.1:c.4064A>G NP_001394627.1:p.His1355Arg missense NM_001407724.1:c.4064A>G NP_001394653.1:p.His1355Arg missense NM_001407725.1:c.4064A>G NP_001394654.1:p.His1355Arg missense NM_001407726.1:c.4064A>G NP_001394655.1:p.His1355Arg missense NM_001407727.1:c.4064A>G NP_001394656.1:p.His1355Arg missense NM_001407728.1:c.4064A>G NP_001394657.1:p.His1355Arg missense NM_001407729.1:c.4064A>G NP_001394658.1:p.His1355Arg missense NM_001407730.1:c.4064A>G NP_001394659.1:p.His1355Arg missense NM_001407731.1:c.4064A>G NP_001394660.1:p.His1355Arg missense NM_001407732.1:c.4064A>G NP_001394661.1:p.His1355Arg missense NM_001407733.1:c.4064A>G NP_001394662.1:p.His1355Arg missense NM_001407734.1:c.4064A>G NP_001394663.1:p.His1355Arg missense NM_001407735.1:c.4064A>G NP_001394664.1:p.His1355Arg missense NM_001407736.1:c.4064A>G NP_001394665.1:p.His1355Arg missense NM_001407737.1:c.4064A>G NP_001394666.1:p.His1355Arg missense NM_001407738.1:c.4064A>G NP_001394667.1:p.His1355Arg missense NM_001407739.1:c.4064A>G NP_001394668.1:p.His1355Arg missense NM_001407740.1:c.4061A>G NP_001394669.1:p.His1354Arg missense NM_001407741.1:c.4061A>G NP_001394670.1:p.His1354Arg missense NM_001407742.1:c.4061A>G NP_001394671.1:p.His1354Arg missense NM_001407743.1:c.4061A>G NP_001394672.1:p.His1354Arg missense NM_001407744.1:c.4061A>G NP_001394673.1:p.His1354Arg missense NM_001407745.1:c.4061A>G NP_001394674.1:p.His1354Arg missense NM_001407746.1:c.4061A>G NP_001394675.1:p.His1354Arg missense NM_001407747.1:c.4061A>G NP_001394676.1:p.His1354Arg missense NM_001407748.1:c.4061A>G NP_001394677.1:p.His1354Arg missense NM_001407749.1:c.4061A>G NP_001394678.1:p.His1354Arg missense NM_001407750.1:c.4061A>G NP_001394679.1:p.His1354Arg missense NM_001407751.1:c.4061A>G NP_001394680.1:p.His1354Arg missense NM_001407752.1:c.4061A>G NP_001394681.1:p.His1354Arg missense NM_001407838.1:c.4061A>G NP_001394767.1:p.His1354Arg missense NM_001407839.1:c.4061A>G NP_001394768.1:p.His1354Arg missense NM_001407841.1:c.4061A>G NP_001394770.1:p.His1354Arg missense NM_001407842.1:c.4061A>G NP_001394771.1:p.His1354Arg missense NM_001407843.1:c.4061A>G NP_001394772.1:p.His1354Arg missense NM_001407844.1:c.4061A>G NP_001394773.1:p.His1354Arg missense NM_001407845.1:c.4061A>G NP_001394774.1:p.His1354Arg missense NM_001407846.1:c.4061A>G NP_001394775.1:p.His1354Arg missense NM_001407847.1:c.4058A>G NP_001394776.1:p.His1353Arg missense NM_001407848.1:c.4058A>G NP_001394777.1:p.His1353Arg missense NM_001407849.1:c.4058A>G NP_001394778.1:p.His1353Arg missense NM_001407850.1:c.4061A>G NP_001394779.1:p.His1354Arg missense NM_001407851.1:c.4061A>G NP_001394780.1:p.His1354Arg missense NM_001407852.1:c.4061A>G NP_001394781.1:p.His1354Arg missense NM_001407853.1:c.3992A>G NP_001394782.1:p.His1331Arg missense NM_001407854.1:c.4205A>G NP_001394783.1:p.His1402Arg missense NM_001407858.1:c.4205A>G NP_001394787.1:p.His1402Arg missense NM_001407859.1:c.4205A>G NP_001394788.1:p.His1402Arg missense NM_001407860.1:c.4202A>G NP_001394789.1:p.His1401Arg missense NM_001407861.1:c.4202A>G NP_001394790.1:p.His1401Arg missense NM_001407862.1:c.4004A>G NP_001394791.1:p.His1335Arg missense NM_001407863.1:c.4082A>G NP_001394792.1:p.His1361Arg missense NM_001407874.1:c.4001A>G NP_001394803.1:p.His1334Arg missense NM_001407875.1:c.4001A>G NP_001394804.1:p.His1334Arg missense NM_001407879.1:c.3995A>G NP_001394808.1:p.His1332Arg missense NM_001407881.1:c.3995A>G NP_001394810.1:p.His1332Arg missense NM_001407882.1:c.3995A>G NP_001394811.1:p.His1332Arg missense NM_001407884.1:c.3995A>G NP_001394813.1:p.His1332Arg missense NM_001407885.1:c.3995A>G NP_001394814.1:p.His1332Arg missense NM_001407886.1:c.3995A>G NP_001394815.1:p.His1332Arg missense NM_001407887.1:c.3995A>G NP_001394816.1:p.His1332Arg missense NM_001407889.1:c.3995A>G NP_001394818.1:p.His1332Arg missense NM_001407894.1:c.3992A>G NP_001394823.1:p.His1331Arg missense NM_001407895.1:c.3992A>G NP_001394824.1:p.His1331Arg missense NM_001407896.1:c.3992A>G NP_001394825.1:p.His1331Arg missense NM_001407897.1:c.3992A>G NP_001394826.1:p.His1331Arg missense NM_001407898.1:c.3992A>G NP_001394827.1:p.His1331Arg missense NM_001407899.1:c.3992A>G NP_001394828.1:p.His1331Arg missense NM_001407900.1:c.3995A>G NP_001394829.1:p.His1332Arg missense NM_001407902.1:c.3995A>G NP_001394831.1:p.His1332Arg missense NM_001407904.1:c.3995A>G NP_001394833.1:p.His1332Arg missense NM_001407906.1:c.3995A>G NP_001394835.1:p.His1332Arg missense NM_001407907.1:c.3992A>G NP_001394836.1:p.His1331Arg missense NM_001407908.1:c.3992A>G NP_001394837.1:p.His1331Arg missense NM_001407909.1:c.3992A>G NP_001394838.1:p.His1331Arg missense NM_001407910.1:c.3992A>G NP_001394839.1:p.His1331Arg missense NM_001407915.1:c.3989A>G NP_001394844.1:p.His1330Arg missense NM_001407916.1:c.3992A>G NP_001394845.1:p.His1331Arg missense NM_001407917.1:c.3992A>G NP_001394846.1:p.His1331Arg missense NM_001407918.1:c.3992A>G NP_001394847.1:p.His1331Arg missense NM_001407919.1:c.4082A>G NP_001394848.1:p.His1361Arg missense NM_001407920.1:c.3941A>G NP_001394849.1:p.His1314Arg missense NM_001407921.1:c.3941A>G NP_001394850.1:p.His1314Arg missense NM_001407922.1:c.3941A>G NP_001394851.1:p.His1314Arg missense NM_001407923.1:c.3941A>G NP_001394852.1:p.His1314Arg missense NM_001407924.1:c.3941A>G NP_001394853.1:p.His1314Arg missense NM_001407925.1:c.3941A>G NP_001394854.1:p.His1314Arg missense NM_001407926.1:c.3941A>G NP_001394855.1:p.His1314Arg missense NM_001407927.1:c.3941A>G NP_001394856.1:p.His1314Arg missense NM_001407928.1:c.3941A>G NP_001394857.1:p.His1314Arg missense NM_001407929.1:c.3941A>G NP_001394858.1:p.His1314Arg missense NM_001407930.1:c.3938A>G NP_001394859.1:p.His1313Arg missense NM_001407931.1:c.3938A>G NP_001394860.1:p.His1313Arg missense NM_001407932.1:c.3938A>G NP_001394861.1:p.His1313Arg missense NM_001407933.1:c.3938A>G NP_001394862.1:p.His1313Arg missense NM_001407934.1:c.3935A>G NP_001394863.1:p.His1312Arg missense NM_001407935.1:c.3938A>G NP_001394864.1:p.His1313Arg missense NM_001407936.1:c.3938A>G NP_001394865.1:p.His1313Arg missense NM_001407937.1:c.4082A>G NP_001394866.1:p.His1361Arg missense NM_001407938.1:c.4082A>G NP_001394867.1:p.His1361Arg missense NM_001407939.1:c.4082A>G NP_001394868.1:p.His1361Arg missense NM_001407940.1:c.4079A>G NP_001394869.1:p.His1360Arg missense NM_001407941.1:c.4079A>G NP_001394870.1:p.His1360Arg missense NM_001407942.1:c.4064A>G NP_001394871.1:p.His1355Arg missense NM_001407943.1:c.4061A>G NP_001394872.1:p.His1354Arg missense NM_001407944.1:c.4064A>G NP_001394873.1:p.His1355Arg missense NM_001407945.1:c.4064A>G NP_001394874.1:p.His1355Arg missense NM_001407946.1:c.3872A>G NP_001394875.1:p.His1291Arg missense NM_001407947.1:c.3872A>G NP_001394876.1:p.His1291Arg missense NM_001407948.1:c.3872A>G NP_001394877.1:p.His1291Arg missense NM_001407949.1:c.3872A>G NP_001394878.1:p.His1291Arg missense NM_001407950.1:c.3872A>G NP_001394879.1:p.His1291Arg missense NM_001407951.1:c.3872A>G NP_001394880.1:p.His1291Arg missense NM_001407952.1:c.3869A>G NP_001394881.1:p.His1290Arg missense NM_001407953.1:c.3869A>G NP_001394882.1:p.His1290Arg missense NM_001407954.1:c.3869A>G NP_001394883.1:p.His1290Arg missense NM_001407955.1:c.3869A>G NP_001394884.1:p.His1290Arg missense NM_001407956.1:c.3866A>G NP_001394885.1:p.His1289Arg missense NM_001407957.1:c.3869A>G NP_001394886.1:p.His1290Arg missense NM_001407958.1:c.3869A>G NP_001394887.1:p.His1290Arg missense NM_001407959.1:c.3824A>G NP_001394888.1:p.His1275Arg missense NM_001407960.1:c.3824A>G NP_001394889.1:p.His1275Arg missense NM_001407962.1:c.3821A>G NP_001394891.1:p.His1274Arg missense NM_001407963.1:c.3821A>G NP_001394892.1:p.His1274Arg missense NM_001407964.1:c.4061A>G NP_001394893.1:p.His1354Arg missense NM_001407965.1:c.3698A>G NP_001394894.1:p.His1233Arg missense NM_001407966.1:c.3317A>G NP_001394895.1:p.His1106Arg missense NM_001407967.1:c.3317A>G NP_001394896.1:p.His1106Arg missense NM_001407968.1:c.1601A>G NP_001394897.1:p.His534Arg missense NM_001407969.1:c.1598A>G NP_001394898.1:p.His533Arg missense NM_001407970.1:c.896A>G NP_001394899.1:p.His299Arg missense NM_001407971.1:c.896A>G NP_001394900.1:p.His299Arg missense NM_001407972.1:c.893A>G NP_001394901.1:p.His298Arg missense NM_001407973.1:c.896A>G NP_001394902.1:p.His299Arg missense NM_001407974.1:c.896A>G NP_001394903.1:p.His299Arg missense NM_001407975.1:c.896A>G NP_001394904.1:p.His299Arg missense NM_001407976.1:c.896A>G NP_001394905.1:p.His299Arg missense NM_001407977.1:c.896A>G NP_001394906.1:p.His299Arg missense NM_001407978.1:c.896A>G NP_001394907.1:p.His299Arg missense NM_001407979.1:c.893A>G NP_001394908.1:p.His298Arg missense NM_001407980.1:c.893A>G NP_001394909.1:p.His298Arg missense NM_001407981.1:c.893A>G NP_001394910.1:p.His298Arg missense NM_001407982.1:c.893A>G NP_001394911.1:p.His298Arg missense NM_001407983.1:c.893A>G NP_001394912.1:p.His298Arg missense NM_001407984.1:c.893A>G NP_001394913.1:p.His298Arg missense NM_001407985.1:c.893A>G NP_001394914.1:p.His298Arg missense NM_001407986.1:c.893A>G NP_001394915.1:p.His298Arg missense NM_001407990.1:c.893A>G NP_001394919.1:p.His298Arg missense NM_001407991.1:c.893A>G NP_001394920.1:p.His298Arg missense NM_001407992.1:c.893A>G NP_001394921.1:p.His298Arg missense NM_001407993.1:c.896A>G NP_001394922.1:p.His299Arg missense NM_001408392.1:c.893A>G NP_001395321.1:p.His298Arg missense NM_001408396.1:c.893A>G NP_001395325.1:p.His298Arg missense NM_001408397.1:c.893A>G NP_001395326.1:p.His298Arg missense NM_001408398.1:c.893A>G NP_001395327.1:p.His298Arg missense NM_001408399.1:c.893A>G NP_001395328.1:p.His298Arg missense NM_001408400.1:c.890A>G NP_001395329.1:p.His297Arg missense NM_001408401.1:c.890A>G NP_001395330.1:p.His297Arg missense NM_001408402.1:c.890A>G NP_001395331.1:p.His297Arg missense NM_001408403.1:c.893A>G NP_001395332.1:p.His298Arg missense NM_001408404.1:c.893A>G NP_001395333.1:p.His298Arg missense NM_001408406.1:c.887A>G NP_001395335.1:p.His296Arg missense NM_001408407.1:c.890A>G NP_001395336.1:p.His297Arg missense NM_001408408.1:c.887A>G NP_001395337.1:p.His296Arg missense NM_001408409.1:c.818A>G NP_001395338.1:p.His273Arg missense NM_001408410.1:c.755A>G NP_001395339.1:p.His252Arg missense NM_001408411.1:c.818A>G NP_001395340.1:p.His273Arg missense NM_001408412.1:c.818A>G NP_001395341.1:p.His273Arg missense NM_001408413.1:c.815A>G NP_001395342.1:p.His272Arg missense NM_001408414.1:c.818A>G NP_001395343.1:p.His273Arg missense NM_001408415.1:c.818A>G NP_001395344.1:p.His273Arg missense NM_001408416.1:c.815A>G NP_001395345.1:p.His272Arg missense NM_001408418.1:c.779A>G NP_001395347.1:p.His260Arg missense NM_001408419.1:c.779A>G NP_001395348.1:p.His260Arg missense NM_001408420.1:c.779A>G NP_001395349.1:p.His260Arg missense NM_001408421.1:c.776A>G NP_001395350.1:p.His259Arg missense NM_001408422.1:c.779A>G NP_001395351.1:p.His260Arg missense NM_001408423.1:c.779A>G NP_001395352.1:p.His260Arg missense NM_001408424.1:c.776A>G NP_001395353.1:p.His259Arg missense NM_001408425.1:c.773A>G NP_001395354.1:p.His258Arg missense NM_001408426.1:c.773A>G NP_001395355.1:p.His258Arg missense NM_001408427.1:c.773A>G NP_001395356.1:p.His258Arg missense NM_001408428.1:c.773A>G NP_001395357.1:p.His258Arg missense NM_001408429.1:c.773A>G NP_001395358.1:p.His258Arg missense NM_001408430.1:c.773A>G NP_001395359.1:p.His258Arg missense NM_001408431.1:c.776A>G NP_001395360.1:p.His259Arg missense NM_001408432.1:c.770A>G NP_001395361.1:p.His257Arg missense NM_001408433.1:c.770A>G NP_001395362.1:p.His257Arg missense NM_001408434.1:c.770A>G NP_001395363.1:p.His257Arg missense NM_001408435.1:c.770A>G NP_001395364.1:p.His257Arg missense NM_001408436.1:c.773A>G NP_001395365.1:p.His258Arg missense NM_001408437.1:c.773A>G NP_001395366.1:p.His258Arg missense NM_001408438.1:c.773A>G NP_001395367.1:p.His258Arg missense NM_001408439.1:c.773A>G NP_001395368.1:p.His258Arg missense NM_001408440.1:c.773A>G NP_001395369.1:p.His258Arg missense NM_001408441.1:c.770A>G NP_001395370.1:p.His257Arg missense NM_001408442.1:c.770A>G NP_001395371.1:p.His257Arg missense NM_001408443.1:c.770A>G NP_001395372.1:p.His257Arg missense NM_001408444.1:c.770A>G NP_001395373.1:p.His257Arg missense NM_001408445.1:c.770A>G NP_001395374.1:p.His257Arg missense NM_001408446.1:c.770A>G NP_001395375.1:p.His257Arg missense NM_001408447.1:c.770A>G NP_001395376.1:p.His257Arg missense NM_001408448.1:c.770A>G NP_001395377.1:p.His257Arg missense NM_001408450.1:c.770A>G NP_001395379.1:p.His257Arg missense NM_001408451.1:c.761A>G NP_001395380.1:p.His254Arg missense NM_001408452.1:c.755A>G NP_001395381.1:p.His252Arg missense NM_001408453.1:c.755A>G NP_001395382.1:p.His252Arg missense NM_001408454.1:c.755A>G NP_001395383.1:p.His252Arg missense NM_001408455.1:c.755A>G NP_001395384.1:p.His252Arg missense NM_001408456.1:c.755A>G NP_001395385.1:p.His252Arg missense NM_001408457.1:c.755A>G NP_001395386.1:p.His252Arg missense NM_001408458.1:c.755A>G NP_001395387.1:p.His252Arg missense NM_001408459.1:c.755A>G NP_001395388.1:p.His252Arg missense NM_001408460.1:c.755A>G NP_001395389.1:p.His252Arg missense NM_001408461.1:c.755A>G NP_001395390.1:p.His252Arg missense NM_001408462.1:c.752A>G NP_001395391.1:p.His251Arg missense NM_001408463.1:c.752A>G NP_001395392.1:p.His251Arg missense NM_001408464.1:c.752A>G NP_001395393.1:p.His251Arg missense NM_001408465.1:c.752A>G NP_001395394.1:p.His251Arg missense NM_001408466.1:c.752A>G NP_001395395.1:p.His251Arg missense NM_001408467.1:c.752A>G NP_001395396.1:p.His251Arg missense NM_001408468.1:c.752A>G NP_001395397.1:p.His251Arg missense NM_001408469.1:c.752A>G NP_001395398.1:p.His251Arg missense NM_001408470.1:c.749A>G NP_001395399.1:p.His250Arg missense NM_001408472.1:c.893A>G NP_001395401.1:p.His298Arg missense NM_001408473.1:c.893A>G NP_001395402.1:p.His298Arg missense NM_001408474.1:c.695A>G NP_001395403.1:p.His232Arg missense NM_001408475.1:c.692A>G NP_001395404.1:p.His231Arg missense NM_001408476.1:c.695A>G NP_001395405.1:p.His232Arg missense NM_001408478.1:c.686A>G NP_001395407.1:p.His229Arg missense NM_001408479.1:c.686A>G NP_001395408.1:p.His229Arg missense NM_001408480.1:c.686A>G NP_001395409.1:p.His229Arg missense NM_001408481.1:c.686A>G NP_001395410.1:p.His229Arg missense NM_001408482.1:c.686A>G NP_001395411.1:p.His229Arg missense NM_001408483.1:c.686A>G NP_001395412.1:p.His229Arg missense NM_001408484.1:c.686A>G NP_001395413.1:p.His229Arg missense NM_001408485.1:c.686A>G NP_001395414.1:p.His229Arg missense NM_001408489.1:c.683A>G NP_001395418.1:p.His228Arg missense NM_001408490.1:c.683A>G NP_001395419.1:p.His228Arg missense NM_001408491.1:c.683A>G NP_001395420.1:p.His228Arg missense NM_001408492.1:c.683A>G NP_001395421.1:p.His228Arg missense NM_001408493.1:c.683A>G NP_001395422.1:p.His228Arg missense NM_001408494.1:c.656A>G NP_001395423.1:p.His219Arg missense NM_001408495.1:c.653A>G NP_001395424.1:p.His218Arg missense NM_001408496.1:c.632A>G NP_001395425.1:p.His211Arg missense NM_001408497.1:c.632A>G NP_001395426.1:p.His211Arg missense NM_001408498.1:c.632A>G NP_001395427.1:p.His211Arg missense NM_001408499.1:c.632A>G NP_001395428.1:p.His211Arg missense NM_001408500.1:c.632A>G NP_001395429.1:p.His211Arg missense NM_001408501.1:c.632A>G NP_001395430.1:p.His211Arg missense NM_001408502.1:c.563A>G NP_001395431.1:p.His188Arg missense NM_001408503.1:c.629A>G NP_001395432.1:p.His210Arg missense NM_001408504.1:c.629A>G NP_001395433.1:p.His210Arg missense NM_001408505.1:c.629A>G NP_001395434.1:p.His210Arg missense NM_001408506.1:c.569A>G NP_001395435.1:p.His190Arg missense NM_001408507.1:c.566A>G NP_001395436.1:p.His189Arg missense NM_001408508.1:c.557A>G NP_001395437.1:p.His186Arg missense NM_001408509.1:c.557A>G NP_001395438.1:p.His186Arg missense NM_001408510.1:c.515A>G NP_001395439.1:p.His172Arg missense NM_001408511.1:c.512A>G NP_001395440.1:p.His171Arg missense NM_001408512.1:c.392A>G NP_001395441.1:p.His131Arg missense NM_001408513.1:c.683A>G NP_001395442.1:p.His228Arg missense NM_001408514.1:c.686A>G NP_001395443.1:p.His229Arg missense NM_007297.4:c.4064A>G NP_009228.2:p.His1355Arg missense NM_007298.4:c.896A>G NP_009229.2:p.His299Arg missense NM_007299.4:c.896A>G NP_009230.2:p.His299Arg missense NM_007300.4:c.4205A>G NP_009231.2:p.His1402Arg missense NM_007304.2:c.896A>G NP_009235.2:p.His299Arg missense NR_027676.2:n.4382A>G non-coding transcript variant NC_000017.11:g.43082556T>C NC_000017.10:g.41234573T>C NG_005905.2:g.135428A>G LRG_292:g.135428A>G LRG_292t1:c.4205A>G LRG_292p1:p.His1402Arg U14680.1:n.4324A>G - Protein change
- H1402R, H299R, H1355R, H1106R, H1289R, H1291R, H1313R, H1331R, H1332R, H1334R, H1335R, H1354R, H1398R, H1400R, H189R, H190R, H250R, H251R, H252R, H258R, H260R, H1376R, H172R, H186R, H218R, H219R, H228R, H257R, H259R, H297R, H298R, H534R, H1275R, H1290R, H1312R, H1330R, H1353R, H1360R, H1361R, H1375R, H1401R, H171R, H231R, H232R, H254R, H1233R, H1274R, H1314R, H131R, H1359R, H1374R, H188R, H210R, H211R, H229R, H272R, H273R, H296R, H533R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082555: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
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 |
12894 | 14680 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
no assertion criteria provided
|
Feb 20, 2004 | RCV000112295.10 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Nov 15, 2023 | RCV000222433.11 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 2, 2023 | RCV001853008.13 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Mar 19, 2024 | RCV004526607.1 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Aug 02, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002177832.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55141). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1402 of the BRCA1 protein (p.His1402Arg). (less)
|
|
Uncertain significance
(Nov 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000274591.5
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The p.H1402R variant (also known as c.4205A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.H1402R variant (also known as c.4205A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4205. The histidine at codon 1402 is replaced by arginine, an amino acid with highly similar properties. 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)
|
|
Uncertain significance
(Mar 19, 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: SCV005039702.1
First in ClinVar: May 07, 2024 Last updated: May 07, 2024 |
Comment:
Variant summary: BRCA1 c.4205A>G (p.His1402Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.4205A>G (p.His1402Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251354 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4205A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant. ClinVar contains an entry for this variant (Variation ID: 55141). Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
|
Uncertain significance
(Feb 20, 2004)
|
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: SCV000145028.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
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 |
---|---|---|---|---|
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
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 |
Text-mined citations for rs80356882 ...
HelpRecord last updated Jun 23, 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.