ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser) (rs80358568)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166938 SCV000217758 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077298 SCV000146593 uncertain significance Breast-ovarian cancer, familial 2 1998-06-22 no assertion criteria provided clinical testing
Color RCV000166938 SCV000683538 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-16 criteria provided, single submitter clinical testing
Counsyl RCV000077298 SCV000488230 uncertain significance Breast-ovarian cancer, familial 2 2016-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000221445 SCV000279279 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.323A>G at the cDNA level, p.Asn108Ser (N108S) at the protein level, and results in the change of an Asparagine to a Serine (AAT>AGT). Using alternate nomenclature, this variant would be defined as BRCA2 551A>G. This variant was observed in an individual during a validation study of a high-throughput protocol for variant identification; however, no clinical information was provided (Hondow 2011). BRCA2 Asn108Ser was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is not located in a known functional 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 BRCA2 Asn108Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000315720 SCV000383610 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375006 SCV000383611 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077298 SCV000109095 uncertain significance Breast-ovarian cancer, familial 2 2013-10-07 no assertion criteria provided clinical testing

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