ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.191C>T (p.Thr64Ile) (rs397507615)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215512 SCV000276687 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Color RCV000215512 SCV000905894 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588169 SCV000694585 uncertain significance not provided 2016-03-08 criteria provided, single submitter clinical testing Variant summary: The c.191C>T variant affects a conserved nucleotide, resulting in amino acid change from Thr to Ile. 5/5 in-silico tools predict damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect ESE site of SRp40. However, these predictions are not confirmed by experimental studies. This variant is not found in 121322 control chromosomes. In addition, one reputable database classified this variant as VUS. 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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