ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.470C>G (p.Ser157Cys) (rs80357045)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589839 SCV000293777 uncertain significance not provided 2018-10-15 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.470C>G at the cDNA level, p.Ser157Cys (S157C) at the protein level, and results in the change of a Serine to a Cysteine (TCT>TGT). Using alternate nomenclature, this variant would be defined as BRCA1 589C>G. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA1 Ser157Cys was not observed in large population cohorts (Lek 2016). This variant is located in the BRD7 binding domain (Harte 2010). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Ser157Cys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112715 SCV000296475 uncertain significance Breast-ovarian cancer, familial 1 2016-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567369 SCV000661135 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000589839 SCV000699166 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.470C>G (p.Ser157Cys) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a damaging outcome. This variant was absent in 121408 control chromosomes. One databases classified this variant as a VUS that reported 1 individual with a pathogenic BRCA1 co-occurrence, c.4603G>T (p.Glu1535Ter). Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Counsyl RCV000112715 SCV000785770 uncertain significance Breast-ovarian cancer, familial 1 2017-11-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112715 SCV000145593 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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