ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.509G>A (p.Arg170Gln) (rs80357264)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000656995 SCV000076807 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130039 SCV000184865 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000656995 SCV000565744 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.509G>A at the cDNA level, p.Arg170Gln (R170Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGG>CAG). Using alternate nomenclature, this variant would be defined as/ has been previously published as BRCA1 628G>A. This variant has been observed in several individuals with a personal and/or family history of breast/ovarian cancer (Meindl 2002, Borg 2010, Kraus 2017). Functional assays have shown BRCA1 Arg170Gln to have functional homology directed recombination but partially defective single-strand annealing (SSA) functionality (Towler 2013). BRCA1 Arg170Gln was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the BRD7 bindig domain . In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA1 Arg170Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000487016 SCV000605902 uncertain significance not specified 2017-06-30 criteria provided, single submitter clinical testing
Color RCV000130039 SCV000909408 likely benign Hereditary cancer-predisposing syndrome 2018-05-25 criteria provided, single submitter clinical testing
Mendelics RCV000112724 SCV001140633 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112724 SCV000145604 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112724 SCV000297619 benign Breast-ovarian cancer, familial 1 2011-02-11 no assertion criteria provided clinical testing

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