ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile)

dbSNP: rs386833396
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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 RCV002345268 SCV002645799 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-27 criteria provided, single submitter clinical testing The p.T17I variant (also known as c.50C>T), located in coding exon 1 of the BRCA2 gene, results from a C to T substitution at nucleotide position 50. The threonine at codon 17 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034443 SCV004562731 uncertain significance not provided 2023-10-06 criteria provided, single submitter clinical testing The BRCA2 c.50C>T p.Thr17Ile variant (rs386833396), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 41552). This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses predict that this variant is neutral (REVEL: 0.079). Due to limited information, the clinical significance of this variant is uncertain at this time.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034443 SCV000043190 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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