ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9134T>C (p.Leu3045Ser)

gnomAD frequency: 0.00001  dbSNP: rs1205776232
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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 RCV000509882 SCV000608036 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-23 criteria provided, single submitter clinical testing The p.L3045S variant (also known as c.9134T>C), located in coding exon 23 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9134. The leucine at codon 3045 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800726 SCV002046270 uncertain significance not provided 2020-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865675 SCV002282872 uncertain significance Hereditary breast ovarian cancer syndrome 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3045 of the BRCA2 protein (p.Leu3045Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 441403). 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.
Baylor Genetics RCV004568655 SCV005059031 uncertain significance Familial cancer of breast 2024-02-23 criteria provided, single submitter clinical testing

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