ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1463T>G (p.Ile488Arg) (rs80358436)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000043813 SCV000071826 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with arginine at codon 488 of the BRCA2 protein (p.Ile488Arg). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 51130). An experimental study has shown that this missense change may disrupt the interaction between BRCA2 and Tsg101, as well as delay cytokinetic bridge resolution during cell cycle (PMID: 22771033). 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) RCV000112925 SCV000145876 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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