ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly) (rs80359090)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045516 SCV000073529 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-04-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 2811 of the BRCA2 protein (p.Asp2811Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs80359090, ExAC 0.001%). This variant has been observed in an individual affected with breast cancer (PMID: 10717622). ClinVar contains an entry for this variant (Variation ID: 52585). An algorithm developed specifically for the BRCA2 gene suggests that this missense change is likely to be tolerated (PMID: 19043619). However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455611 SCV000538495 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 paper; ClinVar: 1 VUS
Color Health, Inc RCV000771458 SCV000903875 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771458 SCV001178907 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-15 criteria provided, single submitter clinical testing The p.D2811G variant (also known as c.8432A>G), located in coding exon 18 of the BRCA2 gene, results from an A to G substitution at nucleotide position 8432. The aspartic acid at codon 2811 is replaced by glycine, an amino acid with similar properties. This alteration (designated as 8660A>G) was reported in a young woman with breast carcinoma, in a population based case-control study (Malone KE et al. Cancer 2000 Mar; 88(6):1393-402). In a study utilizing a bioinformatics method that integrates information about protein sequence, conservation, and structure in a protein likelihood ratio, the effect of this alteration was predicted to be neutral (Karchin R et al. Cancer Inform 2008; 6:203-16). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284112 SCV001469725 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113931 SCV000147362 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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