ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7301A>C (p.Lys2434Thr) (rs80358954)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212258 SCV000210418 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7301A>C at the cDNA level, p.Lys2434Thr (K2434T) at the protein level, and results in the change of a Lysine to a Threonine (AAG>ACG). This variant has been observed in at least three individuals with ovarian cancer, with one of the corresponding ovarian tumors demonstrating loss of heterozygosity (Gleicher 2014, Kanchi 2014, Lu 2015). BRCA2 Lys2434Thr was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Lysine and Threonine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Lys2434Thr occurs at a position that is not conserved and is located in a region that interacts with FANCD2 (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 Lys2434Thr is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000562219 SCV000665143 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000562219 SCV000906933 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-10 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113743 SCV000147065 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Department of Medical Genetics,University Hospital of North Norway RCV000113743 SCV000301452 uncertain significance Breast-ovarian cancer, familial 2 2016-05-01 no assertion criteria provided clinical testing

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