ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5729A>T (p.Asn1910Ile) (rs276174863)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132401 SCV000187493 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000457400 SCV000549623 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 1910 of the BRCA2 protein (p.Asn1910Ile). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is not present in population databases (rs276174863, ExAC no frequency). This variant has been reported in individuals affected with breast cancer and/or ovarian cancer (PMID: 17262179, 17925560, 19619314, 24916970). This variant is also known as 5967A>T in the literature. ClinVar contains an entry for this variant (Variation ID: 96826). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502966 SCV000591994 uncertain significance not specified 2012-03-20 criteria provided, single submitter clinical testing
Mendelics RCV000457400 SCV000838821 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082947 SCV000115021 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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