ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5507A>C (p.Asn1836Thr) (rs80358773)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044674 SCV000072687 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 1836 of the BRCA2 protein (p.Asn1836Thr). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and threonine. 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: 51875). 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 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113442 SCV000146628 uncertain significance Breast-ovarian cancer, familial 2 2001-01-17 no assertion criteria provided clinical testing

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