ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7107A>C (p.Glu2369Asp)

dbSNP: rs80358942
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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 RCV004018934 SCV005029369 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing The p.E2369D variant (also known as c.7107A>C), located in coding exon 13 of the BRCA2 gene, results from an A to C substitution at nucleotide position 7107. The glutamic acid at codon 2369 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, 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113708 SCV000147022 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing

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