ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.587G>A (p.Ser196Asn) (rs80358818)

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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 RCV000510043 SCV000607948 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077365 SCV000147220 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Invitae RCV000044782 SCV000072795 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-21 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 196 of the BRCA2 protein (p.Ser196Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant was reported in an individual affected with breast cancer (PMID: 22962691). Segregation studies were not reported and the clinical significance of this finding was not determined. ClinVar contains an entry for this variant (Variation ID: 51958) Experimental studies have shown that this variant causes a slight increase in exon 7 skipping (PMID: 22962691, 23983145), although the impact of this alteration on BRCA2 protein function was not reported. In summary, this variant is a rare missense change with uncertain impact on mRNA splicing and protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000077365 SCV000109162 uncertain significance Breast-ovarian cancer, familial 2 2012-03-16 no assertion criteria provided clinical testing

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