ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8806T>A (p.Leu2936Met)

dbSNP: rs80359137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575016 SCV000668778 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing The p.L2936M variant (also known as c.8806T>A), located in coding exon 21 of the BRCA2 gene, results from a T to A substitution at nucleotide position 8806. The leucine at codon 2936 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is 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 variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514214 SCV003497947 uncertain significance Hereditary breast ovarian cancer syndrome 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2936 of the BRCA2 protein (p.Leu2936Met). This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 52681). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114003 SCV000147465 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing

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