ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly) (rs80358966)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164907 SCV000215595 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-26 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000759654 SCV000279489 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7447A>G at the cDNA level, p.Ser2483Gly (S2483G) at the protein level, and results in the change of a Serine to a Glycine (AGT>GGT). Using alternate nomenclature, this variant has been previously published as BRCA2 7675A>G. This variant was observed in several individuals and families with breast and/or ovarian cancer (Osorio 2002, Diez 2003, Weber 2006, Menendez 2012). BRCA2 Ser2483Gly was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the DNA binding domain (Yang 2002). While protein based in silico analysis supports that this variant does not alter protein structure/function, splicing models predict the creation of a cryptic splice site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available evidence, it is unclear whether BRCA2 Ser2483Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759654 SCV000889125 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765135 SCV000896361 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000164907 SCV001359212 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-04 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113762 SCV000147090 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000845281 SCV000916366 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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