ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5225A>G (p.Asn1742Ser) (rs864622104)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204481 SCV000259343 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1742 of the BRCA1 protein (p.Asn1742Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast cancer in the literature and in the Leiden Open-source Variation Database (PMID: 29021639, 21520333). ClinVar contains an entry for this variant (Variation ID: 219464). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000222081 SCV000273792 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000487539 SCV000575702 uncertain significance Breast-ovarian cancer, familial 1 2015-08-07 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV000487539 SCV001237942 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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