ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3178G>C (p.Glu1060Gln)

dbSNP: rs80357424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018983 SCV001180283 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-04 criteria provided, single submitter clinical testing The p.E1060Q variant (also known as c.3178G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide position 3178. The glutamic acid at codon 1060 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV001018983 SCV003852440 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Sharing Clinical Reports Project (SCRP) RCV000238712 SCV000297475 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2010-10-28 no assertion criteria provided clinical testing

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