ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2957A>T (p.Asn986Ile) (rs28897718)

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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 RCV000566118 SCV000668862 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113120 SCV000146147 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Invitae RCV000703734 SCV000832648 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 986 of the BRCA2 protein (p.Asn986Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 126000). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
PreventionGenetics RCV000679164 SCV000805679 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing

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