ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6923A>C (p.Lys2308Thr) (rs186810431)

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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 RCV000567072 SCV000668751 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000759651 SCV000570311 uncertain significance not provided 2016-05-11 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6923A>C at the cDNA level, p.Lys2308Thr (K2308T) at the protein level, and results in the change of a Lysine to a Threonine (AAA>ACA). Using alternate nomenclature, this variant would be defined as BRCA2 7151A>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Lys2308Thr was not observed at significant allele frequency in the 1000 Genomes Project. Since Lysine and Threonine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Lys2308Thr occurs at a position where amino acids with properties similar to Lysine are tolerated across species and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Lys2308Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759651 SCV000889115 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing

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