ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.*20C>T (rs375042815)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159894 SCV000209996 benign not specified 2014-10-07 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 Health, Inc RCV000776458 SCV000912003 likely benign Hereditary cancer-predisposing syndrome 2017-11-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000159894 SCV001448604 uncertain significance not specified 2020-11-12 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.*20C>T is located in the untranslated mRNA region downstream of the termination codon. 4/4 computational tools predict no significant impact on normal splicing. However, predicts *20C can potentially affect several miRNA target sites that may influence expression levels of BRCA1. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 251002 control chromosomes (i.e. 5/251002 alleles) in the gnomAD database. In addition, the variant was reported in 2/ 7325 European American women, who were older than age 70, and have never had cancer (in the FLOSSIES database). To our knowledge, no occurrence of c.*20C>T in individuals affected with Hereditary Breast and Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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