ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9490A>G (p.Asn3164Asp)

dbSNP: rs876658597
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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 RCV000218527 SCV000274069 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-13 criteria provided, single submitter clinical testing The p.N3164D variant (also known as c.9490A>G), located in coding exon 24 of the BRCA2 gene, results from an A to G substitution at nucleotide position 9490. The asparagine at codon 3164 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000637427 SCV000758884 uncertain significance Hereditary breast ovarian cancer syndrome 2023-09-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 3164 of the BRCA2 protein (p.Asn3164Asp). 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: 230495). 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.
Color Diagnostics, LLC DBA Color Health RCV000218527 SCV001339990 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-28 criteria provided, single submitter clinical testing This missense variant replaces asparagine with aspartic acid at codon 3164 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003462439 SCV004216036 uncertain significance Familial cancer of breast 2023-07-10 criteria provided, single submitter clinical testing

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