ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4850G>A (p.Ser1617Asn) (rs397507341)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166443 SCV000217238 likely benign Hereditary cancer-predisposing syndrome 2016-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
GeneDx RCV000437440 SCV000520481 likely benign not specified 2015-11-03 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.
Invitae RCV000697920 SCV000826554 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-05 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1617 of the BRCA2 protein (p.Ser1617Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs397507341, ExAC 0.002%). This variant has been reported in families affected with breast and/or ovarian cancer (PMID: 21232165). ClinVar contains an entry for this variant (Variation ID: 37928). 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 asparagine 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 and their 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.
Color RCV000166443 SCV000906092 likely benign Hereditary cancer-predisposing syndrome 2018-09-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031509 SCV000054114 likely benign Breast-ovarian cancer, familial 2 2010-10-04 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000437440 SCV000587727 uncertain significance not specified 2014-01-31 no assertion criteria provided research
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000760998 SCV000890913 uncertain significance Pituitary carcinoma 2016-03-18 no assertion criteria provided clinical testing

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