ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6983A>G (p.Glu2328Gly)

dbSNP: rs201500887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708684 SCV000821946 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708684 SCV004068380 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-30 criteria provided, single submitter clinical testing The p.E2328G variant (also known as c.6983A>G), located in coding exon 12 of the BRCA2 gene, results from an A to G substitution at nucleotide position 6983. The glutamic acid at codon 2328 is replaced by glycine, an amino acid with similar properties. This alteration has been reported in 1/1197 individuals from Greece, Romania, and Turkey undergoing evaluation for inherited cancer predisposition (Tsaousis GN et al. BMC Cancer, 2019 Jun;19:535). 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.

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