ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5714A>T (p.His1905Leu) (rs80358796)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160097 SCV000210365 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5714A>T at the cDNA level, p.His1905Leu (H1905L) at the protein level, and results in the change of a Histidine to a Leucine (CAT>CTT). Using alternate nomenclature, this variant would be defined as BRCA2 5942A>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 His1905Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Histidine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 His1905Leu occurs at a position that is not conserved and is not located in a known functional domain (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 His1905Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000571260 SCV000661270 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
Color RCV000571260 SCV000906116 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082946 SCV000115020 uncertain significance Breast-ovarian cancer, familial 2 2012-03-19 no assertion criteria provided clinical testing

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