ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys) (rs41293457)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000048609 SCV000076622 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1542 of the BRCA1 protein (p.Ser1542Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs41293457, ExAC 0.01%). This variant has been reported in an individual with breast cancer (PMID: 22476429), an individual affected with multiple primary cancers including breast cancer (PMID: 11106241) and in an individual with ovarian cancer (PMID: 11240689). ClinVar contains an entry for this variant (Variation ID: 55242). An experimental study has shown that this missense change does not affect the transcriptional activity of the BRCA1 protein (PMID: 28781887). 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.
Ambry Genetics RCV000129407 SCV000184176 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112366 SCV000296482 uncertain significance Breast-ovarian cancer, familial 1 2016-05-27 criteria provided, single submitter clinical testing
Counsyl RCV000112366 SCV000488159 uncertain significance Breast-ovarian cancer, familial 1 2016-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000418148 SCV000520748 likely benign not specified 2017-08-30 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.
Color RCV000129407 SCV000911163 likely benign Hereditary cancer-predisposing syndrome 2016-01-25 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112366 SCV000145132 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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