ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5378A>G (p.Asn1793Ser) (rs80358759)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226446 SCV000283262 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-02-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1793 of the BRCA2 protein (p.Asn1793Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs80358759, ExAC 0.01%). This variant has been reported in an individual affected with breast cancer (PMID: 20104584). ClinVar contains an entry for this variant (Variation ID: 126066). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000113424 SCV000488192 uncertain significance Breast-ovarian cancer, familial 2 2016-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573455 SCV000668606 likely benign Hereditary cancer-predisposing syndrome 2017-09-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
GeneDx RCV000612467 SCV000724892 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000573455 SCV000906918 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113424 SCV000146605 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113424 SCV000297537 uncertain significance Breast-ovarian cancer, familial 2 2009-08-19 no assertion criteria provided clinical testing

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