ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10162A>G (p.Thr3388Ala) (rs431825278)

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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 RCV000587975 SCV000694499 uncertain significance not provided 2016-04-04 criteria provided, single submitter clinical testing Variant Summary: Variant of interest impacts a non-conserved nucleotide and results in a replacement of a medium size and polar Threonine (T) with a small size and hydrophobic Alanine (A). 3/4 in silico tools predict the variant to be benign, and to our knowledge studies assessing the impact of the variant in isolation on the function of the protein were not published at the time of variant classification. It is absent from the large and broad cohorts of the ExAC project and has not been cited in patients from the literature. However, a nonsense BRCA2 variant located upstream of the variant of interest (p.Lys3326Ter) is a well know benign variant, indicating that Thr3388 is a non-essential amino acid for BRCA2 function, and thus p.Thr3388Ala is likely in the benign spectrum. Moreover, a clinical laboratory classified the variant as Likely benign via ClinVar (without evidence to independently evaluate). Considering all evidence, the variant was classified as a VUS-possibly benign/benign until more information becomes available.
Sharing Clinical Reports Project (SCRP) RCV000082880 SCV000114954 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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