ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6329A>C (p.Asp2110Ala) (rs80358873)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589920 SCV000694964 uncertain significance not provided 2016-03-10 criteria provided, single submitter clinical testing Variant summary: The c.6329A>C variant affects a non-conserved nucleotide, resulting in amino acid change from Asp to Ala. 3/5 in-silico tools predict this variant to be damaging. This variant is not found in 119830 control chromosomes, however, it has been reported in one patient with Ovarian Cancer without co-segregation evidence. In addition, one reputable database classified this variant as VUS. Because of the absence of stronger clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113575 SCV000146829 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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