ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2119G>T (p.Gly707Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417585 SCV002726027 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-22 criteria provided, single submitter clinical testing The p.G707C variant (also known as c.2119G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2119. The glycine at codon 707 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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 RCV002417585 SCV003849486 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).

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