ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4105T>C (p.Ser1369Pro) (rs138567364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483881 SCV000567810 uncertain significance not provided 2015-08-26 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4105T>C at the cDNA level, p.Ser1369Pro (S1369P) at the protein level, and results in the change of a Serine to a Proline (TCT>CCT). Using alternate nomenclature, this variant would be defined as BRCA2 4333T>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ser1369Pro was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Serine and Proline differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ser1369Pro occurs at a position that is not conserved and is located within the region of interaction with POLH (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Ser1369Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000565773 SCV000661355 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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