ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4288A>G (p.Thr1430Ala) (rs1555283691)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588421 SCV000694763 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4288A>G (p.Thr1430Ala) variant involves the alteration of a conserved nucleotide located in the third BRCA2 repeat domain. 2/3 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 119436 control chromosomes. The variant has not been reported in affected individuals in the literature or databases, however functional studies suggest the variant to disrupt the interaction of BRCA2 and RAD51 (Davies_2001, Galkin_2005), which may alter HDR activity . Because of the absence of clinical information, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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