ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.754G>A (p.Asp252Asn) (rs549269828)

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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 RCV000132172 SCV000187251 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
Counsyl RCV000409025 SCV000488793 uncertain significance Breast-ovarian cancer, familial 2 2016-06-17 criteria provided, single submitter clinical testing
Invitae RCV000694838 SCV000823300 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 252 of the BRCA2 protein (p.Asp252Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs549269828, ExAC 0.002%). This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 21147080, 25136594). This variant is also known as c.982 G>A p.D252N in the literature. ClinVar contains an entry for this variant (Variation ID: 142771). 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.
Mendelics RCV000694838 SCV000838746 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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