ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9865T>C (p.Phe3289Leu) (rs1555289980)

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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 RCV000590174 SCV000695276 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9865T>C (p.Phe3289Leu) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome. Phe3289 is not located in a known functional domain of the Breast cancer type 2 susceptibility protein. This variant was absent in 121366 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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