ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) (rs202155613)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000074559 SCV000108644 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9106C>G at the cDNA level, p.Gln3036Glu (Q3036E) at the protein level, and results in the change of a Glutamine to a Glutamic Acid (CAA>GAA). Using alternate nomenclature, this variant would be defined as BRCA2 9334C>G. This variant was observed in a Malaysian breast cancer patient (Thirtagiri 2008). BRCA2 Gln3036Glu was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Glutamine and Glutamic Acid differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Gln3036Glu is located in the DNA binding domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available information, it is unclear whether BRCA2 Gln3036Glu is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000223314 SCV000276148 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289162 SCV000383801 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344086 SCV000383802 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000031795 SCV000488164 uncertain significance Breast-ovarian cancer, familial 2 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV000289162 SCV000549747 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 3036 of the BRCA2 protein (p.Gln3036Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs202155613, ExAC 0.05%). This variant has been reported in the literature in an individual affected with breast cancer (PMID: 18627636). This variant is also known as 9334C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 38212). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000223314 SCV000910983 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031795 SCV000054403 uncertain significance Breast-ovarian cancer, familial 2 2011-06-30 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031795 SCV000147540 uncertain significance Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing

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