The c.3082C>T variant in BRCA1 is a missense variant predicted to cause substitution of Arginine by Cysteine at amino acid 1028 (p.Arg1028Cys). This variant is present in gnomAD v2.1 (exomes only, non-cancer subset) or gnomAD v3.1 (non-cancer subset) but is below the ENIGMA BRCA1/2 VCEP threshold >0.00002 for BS1_Supporting (PM2_Supporting, BS1, and BA1 are not met). This missense variant is located outside of a key functional domain and was not predicted to alter mRNA splicing using the SpliceAI predictor (score 0.01, score threshold < 0.1) (BP1_Strong met). Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID: 32546644) (BS3 met). This variant has been observed in one individual with features considered inconsistent with an FA-associated phenotype, variant is homozygous (total score 1 point) (BS2_Supporting met; PMID: 29435075). Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 0.0009 (based on Cosegregation LR=0.131; Pathology LR=0.056; Co-occurrence LR= 1.527; Family History LR= 0.081), below the thresholds for very strong benign evidence (LR <0.00285) (BP5_Very strong met; PMID: 31131967). In summary, this variant meets the criteria to be classified as a Benign variant for BRCA1-related cancer predisposition based on the ACMG/AMP criteria applied as specified by the ENIGMA BRCA1/2 VCEP (BP1_Strong, BS3, BS2_Supporting, BP5_Very strong).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Benign
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
Variation ID: 37506 Accession: VCV000037506.33
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092449 (GRCh38) [ NCBI UCSC ] 17: 41244466 (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 Aug 4, 2024 Jun 11, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3082C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1028Cys missense NM_001407571.1:c.2869C>T NP_001394500.1:p.Arg957Cys missense NM_001407581.1:c.3082C>T NP_001394510.1:p.Arg1028Cys missense NM_001407582.1:c.3082C>T NP_001394511.1:p.Arg1028Cys missense NM_001407583.1:c.3082C>T NP_001394512.1:p.Arg1028Cys missense NM_001407585.1:c.3082C>T NP_001394514.1:p.Arg1028Cys missense NM_001407587.1:c.3079C>T NP_001394516.1:p.Arg1027Cys missense NM_001407590.1:c.3079C>T NP_001394519.1:p.Arg1027Cys missense NM_001407591.1:c.3079C>T NP_001394520.1:p.Arg1027Cys missense NM_001407593.1:c.3082C>T NP_001394522.1:p.Arg1028Cys missense NM_001407594.1:c.3082C>T NP_001394523.1:p.Arg1028Cys missense NM_001407596.1:c.3082C>T NP_001394525.1:p.Arg1028Cys missense NM_001407597.1:c.3082C>T NP_001394526.1:p.Arg1028Cys missense NM_001407598.1:c.3082C>T NP_001394527.1:p.Arg1028Cys missense NM_001407602.1:c.3082C>T NP_001394531.1:p.Arg1028Cys missense NM_001407603.1:c.3082C>T NP_001394532.1:p.Arg1028Cys missense NM_001407605.1:c.3082C>T NP_001394534.1:p.Arg1028Cys missense NM_001407610.1:c.3079C>T NP_001394539.1:p.Arg1027Cys missense NM_001407611.1:c.3079C>T NP_001394540.1:p.Arg1027Cys missense NM_001407612.1:c.3079C>T NP_001394541.1:p.Arg1027Cys missense NM_001407613.1:c.3079C>T NP_001394542.1:p.Arg1027Cys missense NM_001407614.1:c.3079C>T NP_001394543.1:p.Arg1027Cys missense NM_001407615.1:c.3079C>T NP_001394544.1:p.Arg1027Cys missense NM_001407616.1:c.3082C>T NP_001394545.1:p.Arg1028Cys missense NM_001407617.1:c.3082C>T NP_001394546.1:p.Arg1028Cys missense NM_001407618.1:c.3082C>T NP_001394547.1:p.Arg1028Cys missense NM_001407619.1:c.3082C>T NP_001394548.1:p.Arg1028Cys missense NM_001407620.1:c.3082C>T NP_001394549.1:p.Arg1028Cys missense NM_001407621.1:c.3082C>T NP_001394550.1:p.Arg1028Cys missense NM_001407622.1:c.3082C>T NP_001394551.1:p.Arg1028Cys missense NM_001407623.1:c.3082C>T NP_001394552.1:p.Arg1028Cys missense NM_001407624.1:c.3082C>T NP_001394553.1:p.Arg1028Cys missense NM_001407625.1:c.3082C>T NP_001394554.1:p.Arg1028Cys missense NM_001407626.1:c.3082C>T NP_001394555.1:p.Arg1028Cys missense NM_001407627.1:c.3079C>T NP_001394556.1:p.Arg1027Cys missense NM_001407628.1:c.3079C>T NP_001394557.1:p.Arg1027Cys missense NM_001407629.1:c.3079C>T NP_001394558.1:p.Arg1027Cys missense NM_001407630.1:c.3079C>T NP_001394559.1:p.Arg1027Cys missense NM_001407631.1:c.3079C>T NP_001394560.1:p.Arg1027Cys missense NM_001407632.1:c.3079C>T NP_001394561.1:p.Arg1027Cys missense NM_001407633.1:c.3079C>T NP_001394562.1:p.Arg1027Cys missense NM_001407634.1:c.3079C>T NP_001394563.1:p.Arg1027Cys missense NM_001407635.1:c.3079C>T NP_001394564.1:p.Arg1027Cys missense NM_001407636.1:c.3079C>T NP_001394565.1:p.Arg1027Cys missense NM_001407637.1:c.3079C>T NP_001394566.1:p.Arg1027Cys missense NM_001407638.1:c.3079C>T NP_001394567.1:p.Arg1027Cys missense NM_001407639.1:c.3082C>T NP_001394568.1:p.Arg1028Cys missense NM_001407640.1:c.3082C>T NP_001394569.1:p.Arg1028Cys missense NM_001407641.1:c.3082C>T NP_001394570.1:p.Arg1028Cys missense NM_001407642.1:c.3082C>T NP_001394571.1:p.Arg1028Cys missense NM_001407644.1:c.3079C>T NP_001394573.1:p.Arg1027Cys missense NM_001407645.1:c.3079C>T NP_001394574.1:p.Arg1027Cys missense NM_001407646.1:c.3073C>T NP_001394575.1:p.Arg1025Cys missense NM_001407647.1:c.3073C>T NP_001394576.1:p.Arg1025Cys missense NM_001407648.1:c.2959C>T NP_001394577.1:p.Arg987Cys missense NM_001407649.1:c.2956C>T NP_001394578.1:p.Arg986Cys missense NM_001407652.1:c.3082C>T NP_001394581.1:p.Arg1028Cys missense NM_001407653.1:c.3004C>T NP_001394582.1:p.Arg1002Cys missense NM_001407654.1:c.3004C>T NP_001394583.1:p.Arg1002Cys missense NM_001407655.1:c.3004C>T NP_001394584.1:p.Arg1002Cys missense NM_001407656.1:c.3004C>T NP_001394585.1:p.Arg1002Cys missense NM_001407657.1:c.3004C>T NP_001394586.1:p.Arg1002Cys missense NM_001407658.1:c.3004C>T NP_001394587.1:p.Arg1002Cys missense NM_001407659.1:c.3001C>T NP_001394588.1:p.Arg1001Cys missense NM_001407660.1:c.3001C>T NP_001394589.1:p.Arg1001Cys missense NM_001407661.1:c.3001C>T NP_001394590.1:p.Arg1001Cys missense NM_001407662.1:c.3001C>T NP_001394591.1:p.Arg1001Cys missense NM_001407663.1:c.3004C>T NP_001394592.1:p.Arg1002Cys missense NM_001407664.1:c.2959C>T NP_001394593.1:p.Arg987Cys missense NM_001407665.1:c.2959C>T NP_001394594.1:p.Arg987Cys missense NM_001407666.1:c.2959C>T NP_001394595.1:p.Arg987Cys missense NM_001407667.1:c.2959C>T NP_001394596.1:p.Arg987Cys missense NM_001407668.1:c.2959C>T NP_001394597.1:p.Arg987Cys missense NM_001407669.1:c.2959C>T NP_001394598.1:p.Arg987Cys missense NM_001407670.1:c.2956C>T NP_001394599.1:p.Arg986Cys missense NM_001407671.1:c.2956C>T NP_001394600.1:p.Arg986Cys missense NM_001407672.1:c.2956C>T NP_001394601.1:p.Arg986Cys missense NM_001407673.1:c.2956C>T NP_001394602.1:p.Arg986Cys missense NM_001407674.1:c.2959C>T NP_001394603.1:p.Arg987Cys missense NM_001407675.1:c.2959C>T NP_001394604.1:p.Arg987Cys missense NM_001407676.1:c.2959C>T NP_001394605.1:p.Arg987Cys missense NM_001407677.1:c.2959C>T NP_001394606.1:p.Arg987Cys missense NM_001407678.1:c.2959C>T NP_001394607.1:p.Arg987Cys missense NM_001407679.1:c.2959C>T NP_001394608.1:p.Arg987Cys missense NM_001407680.1:c.2959C>T NP_001394609.1:p.Arg987Cys missense NM_001407681.1:c.2959C>T NP_001394610.1:p.Arg987Cys missense NM_001407682.1:c.2959C>T NP_001394611.1:p.Arg987Cys missense NM_001407683.1:c.2959C>T NP_001394612.1:p.Arg987Cys missense NM_001407684.1:c.3082C>T NP_001394613.1:p.Arg1028Cys missense NM_001407685.1:c.2956C>T NP_001394614.1:p.Arg986Cys missense NM_001407686.1:c.2956C>T NP_001394615.1:p.Arg986Cys missense NM_001407687.1:c.2956C>T NP_001394616.1:p.Arg986Cys missense NM_001407688.1:c.2956C>T NP_001394617.1:p.Arg986Cys missense NM_001407689.1:c.2956C>T NP_001394618.1:p.Arg986Cys missense NM_001407690.1:c.2956C>T NP_001394619.1:p.Arg986Cys missense NM_001407691.1:c.2956C>T NP_001394620.1:p.Arg986Cys missense NM_001407692.1:c.2941C>T NP_001394621.1:p.Arg981Cys missense NM_001407694.1:c.2941C>T NP_001394623.1:p.Arg981Cys missense NM_001407695.1:c.2941C>T NP_001394624.1:p.Arg981Cys missense NM_001407696.1:c.2941C>T NP_001394625.1:p.Arg981Cys missense NM_001407697.1:c.2941C>T NP_001394626.1:p.Arg981Cys missense NM_001407698.1:c.2941C>T NP_001394627.1:p.Arg981Cys missense NM_001407724.1:c.2941C>T NP_001394653.1:p.Arg981Cys missense NM_001407725.1:c.2941C>T NP_001394654.1:p.Arg981Cys missense NM_001407726.1:c.2941C>T NP_001394655.1:p.Arg981Cys missense NM_001407727.1:c.2941C>T NP_001394656.1:p.Arg981Cys missense NM_001407728.1:c.2941C>T NP_001394657.1:p.Arg981Cys missense NM_001407729.1:c.2941C>T NP_001394658.1:p.Arg981Cys missense NM_001407730.1:c.2941C>T NP_001394659.1:p.Arg981Cys missense NM_001407731.1:c.2941C>T NP_001394660.1:p.Arg981Cys missense NM_001407732.1:c.2941C>T NP_001394661.1:p.Arg981Cys missense NM_001407733.1:c.2941C>T NP_001394662.1:p.Arg981Cys missense NM_001407734.1:c.2941C>T NP_001394663.1:p.Arg981Cys missense NM_001407735.1:c.2941C>T NP_001394664.1:p.Arg981Cys missense NM_001407736.1:c.2941C>T NP_001394665.1:p.Arg981Cys missense NM_001407737.1:c.2941C>T NP_001394666.1:p.Arg981Cys missense NM_001407738.1:c.2941C>T NP_001394667.1:p.Arg981Cys missense NM_001407739.1:c.2941C>T NP_001394668.1:p.Arg981Cys missense NM_001407740.1:c.2938C>T NP_001394669.1:p.Arg980Cys missense NM_001407741.1:c.2938C>T NP_001394670.1:p.Arg980Cys missense NM_001407742.1:c.2938C>T NP_001394671.1:p.Arg980Cys missense NM_001407743.1:c.2938C>T NP_001394672.1:p.Arg980Cys missense NM_001407744.1:c.2938C>T NP_001394673.1:p.Arg980Cys missense NM_001407745.1:c.2938C>T NP_001394674.1:p.Arg980Cys missense NM_001407746.1:c.2938C>T NP_001394675.1:p.Arg980Cys missense NM_001407747.1:c.2938C>T NP_001394676.1:p.Arg980Cys missense NM_001407748.1:c.2938C>T NP_001394677.1:p.Arg980Cys missense NM_001407749.1:c.2938C>T NP_001394678.1:p.Arg980Cys missense NM_001407750.1:c.2941C>T NP_001394679.1:p.Arg981Cys missense NM_001407751.1:c.2941C>T NP_001394680.1:p.Arg981Cys missense NM_001407752.1:c.2941C>T NP_001394681.1:p.Arg981Cys missense NM_001407838.1:c.2938C>T NP_001394767.1:p.Arg980Cys missense NM_001407839.1:c.2938C>T NP_001394768.1:p.Arg980Cys missense NM_001407841.1:c.2938C>T NP_001394770.1:p.Arg980Cys missense NM_001407842.1:c.2938C>T NP_001394771.1:p.Arg980Cys missense NM_001407843.1:c.2938C>T NP_001394772.1:p.Arg980Cys missense NM_001407844.1:c.2938C>T NP_001394773.1:p.Arg980Cys missense NM_001407845.1:c.2938C>T NP_001394774.1:p.Arg980Cys missense NM_001407846.1:c.2938C>T NP_001394775.1:p.Arg980Cys missense NM_001407847.1:c.2938C>T NP_001394776.1:p.Arg980Cys missense NM_001407848.1:c.2938C>T NP_001394777.1:p.Arg980Cys missense NM_001407849.1:c.2938C>T NP_001394778.1:p.Arg980Cys missense NM_001407850.1:c.2941C>T NP_001394779.1:p.Arg981Cys missense NM_001407851.1:c.2941C>T NP_001394780.1:p.Arg981Cys missense NM_001407852.1:c.2941C>T NP_001394781.1:p.Arg981Cys missense NM_001407853.1:c.2869C>T NP_001394782.1:p.Arg957Cys missense NM_001407854.1:c.3082C>T NP_001394783.1:p.Arg1028Cys missense NM_001407858.1:c.3082C>T NP_001394787.1:p.Arg1028Cys missense NM_001407859.1:c.3082C>T NP_001394788.1:p.Arg1028Cys missense NM_001407860.1:c.3079C>T NP_001394789.1:p.Arg1027Cys missense NM_001407861.1:c.3079C>T NP_001394790.1:p.Arg1027Cys missense NM_001407862.1:c.2881C>T NP_001394791.1:p.Arg961Cys missense NM_001407863.1:c.2959C>T NP_001394792.1:p.Arg987Cys missense NM_001407874.1:c.2878C>T NP_001394803.1:p.Arg960Cys missense NM_001407875.1:c.2878C>T NP_001394804.1:p.Arg960Cys missense NM_001407879.1:c.2872C>T NP_001394808.1:p.Arg958Cys missense NM_001407881.1:c.2872C>T NP_001394810.1:p.Arg958Cys missense NM_001407882.1:c.2872C>T NP_001394811.1:p.Arg958Cys missense NM_001407884.1:c.2872C>T NP_001394813.1:p.Arg958Cys missense NM_001407885.1:c.2872C>T NP_001394814.1:p.Arg958Cys missense NM_001407886.1:c.2872C>T NP_001394815.1:p.Arg958Cys missense NM_001407887.1:c.2872C>T NP_001394816.1:p.Arg958Cys missense NM_001407889.1:c.2872C>T NP_001394818.1:p.Arg958Cys missense NM_001407894.1:c.2869C>T NP_001394823.1:p.Arg957Cys missense NM_001407895.1:c.2869C>T NP_001394824.1:p.Arg957Cys missense NM_001407896.1:c.2869C>T NP_001394825.1:p.Arg957Cys missense NM_001407897.1:c.2869C>T NP_001394826.1:p.Arg957Cys missense NM_001407898.1:c.2869C>T NP_001394827.1:p.Arg957Cys missense NM_001407899.1:c.2869C>T NP_001394828.1:p.Arg957Cys missense NM_001407900.1:c.2872C>T NP_001394829.1:p.Arg958Cys missense NM_001407902.1:c.2872C>T NP_001394831.1:p.Arg958Cys missense NM_001407904.1:c.2872C>T NP_001394833.1:p.Arg958Cys missense NM_001407906.1:c.2872C>T NP_001394835.1:p.Arg958Cys missense NM_001407907.1:c.2872C>T NP_001394836.1:p.Arg958Cys missense NM_001407908.1:c.2872C>T NP_001394837.1:p.Arg958Cys missense NM_001407909.1:c.2872C>T NP_001394838.1:p.Arg958Cys missense NM_001407910.1:c.2872C>T NP_001394839.1:p.Arg958Cys missense NM_001407915.1:c.2869C>T NP_001394844.1:p.Arg957Cys missense NM_001407916.1:c.2869C>T NP_001394845.1:p.Arg957Cys missense NM_001407917.1:c.2869C>T NP_001394846.1:p.Arg957Cys missense NM_001407918.1:c.2869C>T NP_001394847.1:p.Arg957Cys missense NM_001407919.1:c.2959C>T NP_001394848.1:p.Arg987Cys missense NM_001407920.1:c.2818C>T NP_001394849.1:p.Arg940Cys missense NM_001407921.1:c.2818C>T NP_001394850.1:p.Arg940Cys missense NM_001407922.1:c.2818C>T NP_001394851.1:p.Arg940Cys missense NM_001407923.1:c.2818C>T NP_001394852.1:p.Arg940Cys missense NM_001407924.1:c.2818C>T NP_001394853.1:p.Arg940Cys missense NM_001407925.1:c.2818C>T NP_001394854.1:p.Arg940Cys missense NM_001407926.1:c.2818C>T NP_001394855.1:p.Arg940Cys missense NM_001407927.1:c.2818C>T NP_001394856.1:p.Arg940Cys missense NM_001407928.1:c.2818C>T NP_001394857.1:p.Arg940Cys missense NM_001407929.1:c.2818C>T NP_001394858.1:p.Arg940Cys missense NM_001407930.1:c.2815C>T NP_001394859.1:p.Arg939Cys missense NM_001407931.1:c.2815C>T NP_001394860.1:p.Arg939Cys missense NM_001407932.1:c.2815C>T NP_001394861.1:p.Arg939Cys missense NM_001407933.1:c.2818C>T NP_001394862.1:p.Arg940Cys missense NM_001407934.1:c.2815C>T NP_001394863.1:p.Arg939Cys missense NM_001407935.1:c.2818C>T NP_001394864.1:p.Arg940Cys missense NM_001407936.1:c.2815C>T NP_001394865.1:p.Arg939Cys missense NM_001407937.1:c.2959C>T NP_001394866.1:p.Arg987Cys missense NM_001407938.1:c.2959C>T NP_001394867.1:p.Arg987Cys missense NM_001407939.1:c.2959C>T NP_001394868.1:p.Arg987Cys missense NM_001407940.1:c.2956C>T NP_001394869.1:p.Arg986Cys missense NM_001407941.1:c.2956C>T NP_001394870.1:p.Arg986Cys missense NM_001407942.1:c.2941C>T NP_001394871.1:p.Arg981Cys missense NM_001407943.1:c.2938C>T NP_001394872.1:p.Arg980Cys missense NM_001407944.1:c.2941C>T NP_001394873.1:p.Arg981Cys missense NM_001407945.1:c.2941C>T NP_001394874.1:p.Arg981Cys missense NM_001407946.1:c.2749C>T NP_001394875.1:p.Arg917Cys missense NM_001407947.1:c.2749C>T NP_001394876.1:p.Arg917Cys missense NM_001407948.1:c.2749C>T NP_001394877.1:p.Arg917Cys missense NM_001407949.1:c.2749C>T NP_001394878.1:p.Arg917Cys missense NM_001407950.1:c.2749C>T NP_001394879.1:p.Arg917Cys missense NM_001407951.1:c.2749C>T NP_001394880.1:p.Arg917Cys missense NM_001407952.1:c.2749C>T NP_001394881.1:p.Arg917Cys missense NM_001407953.1:c.2749C>T NP_001394882.1:p.Arg917Cys missense NM_001407954.1:c.2746C>T NP_001394883.1:p.Arg916Cys missense NM_001407955.1:c.2746C>T NP_001394884.1:p.Arg916Cys missense NM_001407956.1:c.2746C>T NP_001394885.1:p.Arg916Cys missense NM_001407957.1:c.2749C>T NP_001394886.1:p.Arg917Cys missense NM_001407958.1:c.2746C>T NP_001394887.1:p.Arg916Cys missense NM_001407959.1:c.2701C>T NP_001394888.1:p.Arg901Cys missense NM_001407960.1:c.2701C>T NP_001394889.1:p.Arg901Cys missense NM_001407962.1:c.2698C>T NP_001394891.1:p.Arg900Cys missense NM_001407963.1:c.2701C>T NP_001394892.1:p.Arg901Cys missense NM_001407964.1:c.2938C>T NP_001394893.1:p.Arg980Cys missense NM_001407965.1:c.2578C>T NP_001394894.1:p.Arg860Cys missense NM_001407966.1:c.2194C>T NP_001394895.1:p.Arg732Cys missense NM_001407967.1:c.2194C>T NP_001394896.1:p.Arg732Cys missense NM_001407968.1:c.788-310C>T intron variant NM_001407969.1:c.788-310C>T intron variant NM_001407970.1:c.788-1417C>T intron variant NM_001407971.1:c.788-1417C>T intron variant NM_001407972.1:c.785-1417C>T intron variant NM_001407973.1:c.788-1417C>T intron variant NM_001407974.1:c.788-1417C>T intron variant NM_001407975.1:c.788-1417C>T intron variant NM_001407976.1:c.788-1417C>T intron variant NM_001407977.1:c.788-1417C>T intron variant NM_001407978.1:c.788-1417C>T intron variant NM_001407979.1:c.788-1417C>T intron variant NM_001407980.1:c.788-1417C>T intron variant NM_001407981.1:c.788-1417C>T intron variant NM_001407982.1:c.788-1417C>T intron variant NM_001407983.1:c.788-1417C>T intron variant NM_001407984.1:c.785-1417C>T intron variant NM_001407985.1:c.785-1417C>T intron variant NM_001407986.1:c.785-1417C>T intron variant NM_001407990.1:c.788-1417C>T intron variant NM_001407991.1:c.785-1417C>T intron variant NM_001407992.1:c.785-1417C>T intron variant NM_001407993.1:c.788-1417C>T intron variant NM_001408392.1:c.785-1417C>T intron variant NM_001408396.1:c.785-1417C>T intron variant NM_001408397.1:c.785-1417C>T intron variant NM_001408398.1:c.785-1417C>T intron variant NM_001408399.1:c.785-1417C>T intron variant NM_001408400.1:c.785-1417C>T intron variant NM_001408401.1:c.785-1417C>T intron variant NM_001408402.1:c.785-1417C>T intron variant NM_001408403.1:c.788-1417C>T intron variant NM_001408404.1:c.788-1417C>T intron variant NM_001408406.1:c.791-1426C>T intron variant NM_001408407.1:c.785-1417C>T intron variant NM_001408408.1:c.779-1417C>T intron variant NM_001408409.1:c.710-1417C>T intron variant NM_001408410.1:c.647-1417C>T intron variant NM_001408411.1:c.710-1417C>T intron variant NM_001408412.1:c.710-1417C>T intron variant NM_001408413.1:c.707-1417C>T intron variant NM_001408414.1:c.710-1417C>T intron variant NM_001408415.1:c.710-1417C>T intron variant NM_001408416.1:c.707-1417C>T intron variant NM_001408418.1:c.671-1417C>T intron variant NM_001408419.1:c.671-1417C>T intron variant NM_001408420.1:c.671-1417C>T intron variant NM_001408421.1:c.668-1417C>T intron variant NM_001408422.1:c.671-1417C>T intron variant NM_001408423.1:c.671-1417C>T intron variant NM_001408424.1:c.668-1417C>T intron variant NM_001408425.1:c.665-1417C>T intron variant NM_001408426.1:c.665-1417C>T intron variant NM_001408427.1:c.665-1417C>T intron variant NM_001408428.1:c.665-1417C>T intron variant NM_001408429.1:c.665-1417C>T intron variant NM_001408430.1:c.665-1417C>T intron variant NM_001408431.1:c.668-1417C>T intron variant NM_001408432.1:c.662-1417C>T intron variant NM_001408433.1:c.662-1417C>T intron variant NM_001408434.1:c.662-1417C>T intron variant NM_001408435.1:c.662-1417C>T intron variant NM_001408436.1:c.665-1417C>T intron variant NM_001408437.1:c.665-1417C>T intron variant NM_001408438.1:c.665-1417C>T intron variant NM_001408439.1:c.665-1417C>T intron variant NM_001408440.1:c.665-1417C>T intron variant NM_001408441.1:c.665-1417C>T intron variant NM_001408442.1:c.665-1417C>T intron variant NM_001408443.1:c.665-1417C>T intron variant NM_001408444.1:c.665-1417C>T intron variant NM_001408445.1:c.662-1417C>T intron variant NM_001408446.1:c.662-1417C>T intron variant NM_001408447.1:c.662-1417C>T intron variant NM_001408448.1:c.662-1417C>T intron variant NM_001408450.1:c.662-1417C>T intron variant NM_001408451.1:c.653-1417C>T intron variant NM_001408452.1:c.647-1417C>T intron variant NM_001408453.1:c.647-1417C>T intron variant NM_001408454.1:c.647-1417C>T intron variant NM_001408455.1:c.647-1417C>T intron variant NM_001408456.1:c.647-1417C>T intron variant NM_001408457.1:c.647-1417C>T intron variant NM_001408458.1:c.647-1417C>T intron variant NM_001408459.1:c.647-1417C>T intron variant NM_001408460.1:c.647-1417C>T intron variant NM_001408461.1:c.647-1417C>T intron variant NM_001408462.1:c.644-1417C>T intron variant NM_001408463.1:c.644-1417C>T intron variant NM_001408464.1:c.644-1417C>T intron variant NM_001408465.1:c.644-1417C>T intron variant NM_001408466.1:c.647-1417C>T intron variant NM_001408467.1:c.647-1417C>T intron variant NM_001408468.1:c.644-1417C>T intron variant NM_001408469.1:c.647-1417C>T intron variant NM_001408470.1:c.644-1417C>T intron variant NM_001408472.1:c.788-1417C>T intron variant NM_001408473.1:c.785-1417C>T intron variant NM_001408474.1:c.587-1417C>T intron variant NM_001408475.1:c.584-1417C>T intron variant NM_001408476.1:c.587-1417C>T intron variant NM_001408478.1:c.578-1417C>T intron variant NM_001408479.1:c.578-1417C>T intron variant NM_001408480.1:c.578-1417C>T intron variant NM_001408481.1:c.578-1417C>T intron variant NM_001408482.1:c.578-1417C>T intron variant NM_001408483.1:c.578-1417C>T intron variant NM_001408484.1:c.578-1417C>T intron variant NM_001408485.1:c.578-1417C>T intron variant NM_001408489.1:c.578-1417C>T intron variant NM_001408490.1:c.575-1417C>T intron variant NM_001408491.1:c.575-1417C>T intron variant NM_001408492.1:c.578-1417C>T intron variant NM_001408493.1:c.575-1417C>T intron variant NM_001408494.1:c.548-1417C>T intron variant NM_001408495.1:c.545-1417C>T intron variant NM_001408496.1:c.524-1417C>T intron variant NM_001408497.1:c.524-1417C>T intron variant NM_001408498.1:c.524-1417C>T intron variant NM_001408499.1:c.524-1417C>T intron variant NM_001408500.1:c.524-1417C>T intron variant NM_001408501.1:c.524-1417C>T intron variant NM_001408502.1:c.455-1417C>T intron variant NM_001408503.1:c.521-1417C>T intron variant NM_001408504.1:c.521-1417C>T intron variant NM_001408505.1:c.521-1417C>T intron variant NM_001408506.1:c.461-1417C>T intron variant NM_001408507.1:c.461-1417C>T intron variant NM_001408508.1:c.452-1417C>T intron variant NM_001408509.1:c.452-1417C>T intron variant NM_001408510.1:c.407-1417C>T intron variant NM_001408511.1:c.404-1417C>T intron variant NM_001408512.1:c.284-1417C>T intron variant NM_001408513.1:c.578-1417C>T intron variant NM_001408514.1:c.578-1417C>T intron variant NM_007297.4:c.2941C>T NP_009228.2:p.Arg981Cys missense NM_007298.4:c.788-1417C>T intron variant NM_007299.4:c.788-1417C>T intron variant NM_007300.4:c.3082C>T NP_009231.2:p.Arg1028Cys missense NR_027676.1:n.3218C>T NC_000017.11:g.43092449G>A NC_000017.10:g.41244466G>A NG_005905.2:g.125535C>T LRG_292:g.125535C>T LRG_292t1:c.3082C>T LRG_292p1:p.Arg1028Cys U14680.1:n.3201C>T - Protein change
- R1028C, R981C, R1002C, R901C, R940C, R957C, R980C, R987C, R1025C, R958C, R732C, R860C, R900C, R916C, R917C, R939C, R961C, R986C, R1001C, R1027C, R960C
- Other names
-
NM_007294.4(BRCA1):c.3082C>T
p.Arg1028Cys
3201C>T
- Canonical SPDI
- NC_000017.11:43092448:G:A
-
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
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| 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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| Conflicting interpretations of pathogenicity (4) |
reviewed by expert panel
|
May 28, 2019 | RCV000031087.26 | |
| Likely benign (1) |
criteria provided, single submitter
|
Jan 30, 2024 | RCV000048066.23 | |
| Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 28, 2019 | RCV000165900.17 | |
| Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Jul 31, 2024 | RCV000442663.17 | |
| Likely benign (1) |
criteria provided, single submitter
|
May 1, 2018 | RCV001705615.9 | |
| Benign (1) |
reviewed by expert panel
|
Jun 11, 2024 | RCV004566762.1 |
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. |
|
|---|---|---|---|---|---|
|
Benign
(Jun 11, 2024)
|
reviewed by expert panel
Method: curation
|
BRCA1-related cancer predisposition
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV004101422.2 First in ClinVar: Nov 11, 2023 Last updated: Jun 17, 2024 |
Comment:
The c.3082C>T variant in BRCA1 is a missense variant predicted to cause substitution of Arginine by Cysteine at amino acid 1028 (p.Arg1028Cys). This variant is … (more)
The c.3082C>T variant in BRCA1 is a missense variant predicted to cause substitution of Arginine by Cysteine at amino acid 1028 (p.Arg1028Cys). This variant is present in gnomAD v2.1 (exomes only, non-cancer subset) or gnomAD v3.1 (non-cancer subset) but is below the ENIGMA BRCA1/2 VCEP threshold >0.00002 for BS1_Supporting (PM2_Supporting, BS1, and BA1 are not met). This missense variant is located outside of a key functional domain and was not predicted to alter mRNA splicing using the SpliceAI predictor (score 0.01, score threshold < 0.1) (BP1_Strong met). Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID: 32546644) (BS3 met). This variant has been observed in one individual with features considered inconsistent with an FA-associated phenotype, variant is homozygous (total score 1 point) (BS2_Supporting met; PMID: 29435075). Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 0.0009 (based on Cosegregation LR=0.131; Pathology LR=0.056; Co-occurrence LR= 1.527; Family History LR= 0.081), below the thresholds for very strong benign evidence (LR <0.00285) (BP5_Very strong met; PMID: 31131967). In summary, this variant meets the criteria to be classified as a Benign variant for BRCA1-related cancer predisposition based on the ACMG/AMP criteria applied as specified by the ENIGMA BRCA1/2 VCEP (BP1_Strong, BS3, BS2_Supporting, BP5_Very strong). (less)
|
|
|
Likely benign
(Jan 30, 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: SCV000076079.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
|
Likely benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140561.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001287308.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
|
|
Likely benign
(May 01, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000526567.5
First in ClinVar: Mar 08, 2017 Last updated: Sep 26, 2021 |
Comment:
This variant is associated with the following publications: (PMID: 12531920, 15385441, 16518693, 27376475, 10923033, 25782689, 10882858, 27062684, 29435075, 33087888)
|
|
|
Likely benign
(Dec 16, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV002065817.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
|
|
|
Uncertain significance
(Dec 20, 2019)
|
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: SCV001361790.1
First in ClinVar: Jun 22, 2020 Last updated: Jun 22, 2020 |
Comment:
Variant summary: BRCA1 c.3082C>T (p.Arg1028Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.3082C>T (p.Arg1028Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251110 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3082C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (e.g. Klemp_2000, Coulet_2010, Azzollini_2016, Schenkel_2016) and endometrioid cancer (Garcia-Sanz_2016) without strong evidence for causality. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. The variant has also been found as a homozygous variant in a patient with a history of chronic lymphatic leukemia and breast cancer, but who did not exhibit symptoms typical of Fanconi anemia, as would be expected in a homozygous patient if the variant were pathogenic (Bondavalli_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar (evaluation after 2014) and cited the variant as likley benign (n=4) and uncertain significance (n=1) . Based on the evidence outlined above, the variant was classified as VUS-possibly benign. (less)
|
|
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Likely benign
(Oct 24, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000688420.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
|
|
Likely benign
(Feb 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000216655.6
First in ClinVar: Mar 24, 2015 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)
|
|
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Benign
(Jul 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV005090350.1
First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024 |
|
|
|
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: SCV000144629.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 2
Observation 2:
Number of individuals with the variant: 3
Ethnicity/Population group: Western European
|
|
|
Likely benign
(May 01, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053683.6
First in ClinVar: Apr 04, 2013 Last updated: May 27, 2015 |
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Comment:
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Comment:
This variant is associated with the following publications: (PMID: 12531920, 15385441, 16518693, 27376475, 10923033, 25782689, 10882858, 27062684, 29435075, 33087888)
Comment:
Variant summary: BRCA1 c.3082C>T (p.Arg1028Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251110 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3082C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (e.g. Klemp_2000, Coulet_2010, Azzollini_2016, Schenkel_2016) and endometrioid cancer (Garcia-Sanz_2016) without strong evidence for causality. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. The variant has also been found as a homozygous variant in a patient with a history of chronic lymphatic leukemia and breast cancer, but who did not exhibit symptoms typical of Fanconi anemia, as would be expected in a homozygous patient if the variant were pathogenic (Bondavalli_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar (evaluation after 2014) and cited the variant as likley benign (n=4) and uncertain significance (n=1) . Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
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 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.
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. |
Comment:
The c.3082C>T variant in BRCA1 is a missense variant predicted to cause substitution of Arginine by Cysteine at amino acid 1028 (p.Arg1028Cys). This variant is present in gnomAD v2.1 (exomes only, non-cancer subset) or gnomAD v3.1 (non-cancer subset) but is below the ENIGMA BRCA1/2 VCEP threshold >0.00002 for BS1_Supporting (PM2_Supporting, BS1, and BA1 are not met). This missense variant is located outside of a key functional domain and was not predicted to alter mRNA splicing using the SpliceAI predictor (score 0.01, score threshold < 0.1) (BP1_Strong met). Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID: 32546644) (BS3 met). This variant has been observed in one individual with features considered inconsistent with an FA-associated phenotype, variant is homozygous (total score 1 point) (BS2_Supporting met; PMID: 29435075). Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 0.0009 (based on Cosegregation LR=0.131; Pathology LR=0.056; Co-occurrence LR= 1.527; Family History LR= 0.081), below the thresholds for very strong benign evidence (LR <0.00285) (BP5_Very strong met; PMID: 31131967). In summary, this variant meets the criteria to be classified as a Benign variant for BRCA1-related cancer predisposition based on the ACMG/AMP criteria applied as specified by the ENIGMA BRCA1/2 VCEP (BP1_Strong, BS3, BS2_Supporting, BP5_Very strong).
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Comment:
This variant is associated with the following publications: (PMID: 12531920, 15385441, 16518693, 27376475, 10923033, 25782689, 10882858, 27062684, 29435075, 33087888)
Comment:
Variant summary: BRCA1 c.3082C>T (p.Arg1028Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251110 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3082C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (e.g. Klemp_2000, Coulet_2010, Azzollini_2016, Schenkel_2016) and endometrioid cancer (Garcia-Sanz_2016) without strong evidence for causality. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. The variant has also been found as a homozygous variant in a patient with a history of chronic lymphatic leukemia and breast cancer, but who did not exhibit symptoms typical of Fanconi anemia, as would be expected in a homozygous patient if the variant were pathogenic (Bondavalli_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar (evaluation after 2014) and cited the variant as likley benign (n=4) and uncertain significance (n=1) . Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
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 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.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report. | Bondavalli D | Oncology letters | 2018 | PMID: 29435075 |
| Chromatin remodelling and DNA repair genes are frequently mutated in endometrioid endometrial carcinoma. | García-Sanz P | International journal of cancer | 2017 | PMID: 27997699 |
| Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. | Schenkel LC | The Journal of molecular diagnostics : JMD | 2016 | PMID: 27376475 |
| Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. | Azzollini J | European journal of internal medicine | 2016 | PMID: 27062684 |
| Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. | Vail PJ | Journal of community genetics | 2015 | PMID: 25782689 |
| A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis. | Coulet F | Genetic testing and molecular biomarkers | 2010 | PMID: 20858050 |
| Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. | Burk-Herrick A | Mammalian genome : official journal of the International Mammalian Genome Society | 2006 | PMID: 16518693 |
| Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
| The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
| Incidence of BRCA1/2 germ line alterations in a high risk cohort participating in a phase II chemoprevention trial. | Klemp J | European journal of cancer (Oxford, England : 1990) | 2000 | PMID: 10882858 |
| https://erepo.clinicalgenome.org/evrepo/ui/interpretation/2061883d-ba9a-4fc8-92c5-d24655eaf5b3 | - | - | - | - |
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Text-mined citations for rs80357049 ...
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Record last updated Nov 10, 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.