ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4813T>C (p.Leu1605=) (rs80356833)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112405 SCV000578453 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae RCV000167794 SCV000076679 benign Hereditary breast and ovarian cancer syndrome 2017-12-25 criteria provided, single submitter clinical testing
GeneDx RCV000048666 SCV000167312 benign not specified 2014-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000131500 SCV000186489 benign Hereditary cancer-predisposing syndrome 2014-07-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000048666 SCV000605891 likely benign not specified 2017-02-04 criteria provided, single submitter clinical testing
Color RCV000131500 SCV000683218 likely benign Hereditary cancer-predisposing syndrome 2016-10-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587240 SCV000699176 likely benign not provided 2016-03-22 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.4813T>C variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. One in-silico tool predicts a benign outcome for this variant. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. ESE finder also predicts that this variant does not affect any ESE site. These predictions have not been verified with in vivo/vitro functional studies. This variant was found in 12/122122 control chromosomes at a frequency of 0.0000983, which does not exceed maximal expected frequency of a pathogenic BRCA1 allele (0.0010005). However, the variant of interest has been reported by UMD to co-occur with a pathogenic BRCA1 variant, c.5266dup (p.Gln1756ProfsX74). In addition, multiple reputable databases and publications (Tarasov_2005, Kim_2006 and Newman_1998) classify the variant as "benign/polymorphism." Taken together, the variant of interest is classified as likely benign or Probable Normal Variant.
Counsyl RCV000112405 SCV000785399 likely benign Breast-ovarian cancer, familial 1 2017-07-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587240 SCV000888931 benign not provided 2018-08-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112405 SCV000145187 uncertain significance Breast-ovarian cancer, familial 1 2000-01-01 no assertion criteria provided clinical testing

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