ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp)

dbSNP: rs587780549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129897 SCV000184715 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-19 criteria provided, single submitter clinical testing The p.E866D variant (also known as c.2598A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 2598. The glutamic acid at codon 866 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well 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.
Color Diagnostics, LLC DBA Color Health RCV000129897 SCV001348071 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-28 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000129897 SCV003848439 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV000119197 SCV000153938 uncertain significance Hereditary breast ovarian cancer syndrome 2014-06-11 no assertion criteria provided clinical testing This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by functional studies. In addition, the p.Glu866Asp amino acid change is poorly conserved and has been observed in the rat, chicken, and zebrafish BRCA2 homologous proteins.

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