ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3614G>T (p.Gly1205Val)

dbSNP: rs1597862536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806757 SCV000946773 uncertain significance Hereditary breast ovarian cancer syndrome 2018-09-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with BRCA1-related disease. This sequence change replaces glycine with valine at codon 1205 of the BRCA1 protein (p.Gly1205Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency).
University of Washington Department of Laboratory Medicine, University of Washington RCV003158189 SCV003846619 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).
Ambry Genetics RCV003158189 SCV005550062 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-22 criteria provided, single submitter clinical testing The p.G1205V variant (also known as c.3614G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 3614. The glycine at codon 1205 is replaced by valine, an amino acid with dissimilar properties. This variant was reported in 1 of 701 Brazilian individuals with features consistent with a hereditary breast and/or ovarian cancer syndrome (Faria JP et al. Breast Cancer Res Treat, 2024 Jun). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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