ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9679C>G (p.Gln3227Glu)

dbSNP: rs1408001886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776896 SCV000912563 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001067469 SCV001232535 uncertain significance Hereditary breast ovarian cancer syndrome 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 3227 of the BRCA2 protein (p.Gln3227Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with esophageal cancer (PMID: 17724471). This variant is also known as 9907C>G. ClinVar contains an entry for this variant (Variation ID: 630879). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. 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.
Ambry Genetics RCV000776896 SCV005548645 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-24 criteria provided, single submitter clinical testing The p.Q3227E variant (also known as c.9679C>G), located in coding exon 26 of the BRCA2 gene, results from a C to G substitution at nucleotide position 9679. The glutamine at codon 3227 is replaced by glutamic 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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