ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9989A>T (p.Glu3330Val)

dbSNP: rs2137665575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001553708 SCV001774685 uncertain significance not specified 2021-07-12 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9989A>T (p.Glu3330Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250776 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.9989A>T in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. At-least one co-occurrence with another pathogenic variant have been observed at our laboratory (BRCA2 c.6952C>T, p.R2318*), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV002386451 SCV002689645 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-26 criteria provided, single submitter clinical testing The p.E3330V variant (also known as c.9989A>T), located in coding exon 26 of the BRCA2 gene, results from an A to T substitution at nucleotide position 9989. The glutamic acid at codon 3330 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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