ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3863A>T (p.Asn1288Ile) (rs80358630)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113231 SCV000146318 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735543 SCV000863681 uncertain significance Breast and/or ovarian cancer 2001-06-11 no assertion criteria provided clinical testing
Invitae RCV000044290 SCV000072303 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-10-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 1288 of the BRCA2 protein (p.Asn1288Ile). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and isoleucine. This sequence change has been reported in the literature and is not present in population databases (rs80358630, no frequency). This sequence change has been reported in an affected patient in the Breast Cancer Information Core (BIC) database (PMID: 10923033). However, the BIC database contains both benign and pathogenic sequence changes, and the interpretation of this particular sequence change is not necessarily informed by its presence in this database. 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: "tolerated"; PolyPhen-2: "possibly damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change that is seen in an affected individual. Segregation studies have not been reported and the impact of this change on protein function is uncertain. Therefore, this sequence change has been classified as a Variant of Uncertain Significance.

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