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
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
Counsyl	RCV000077298	SCV000488230	uncertain significance	Breast-ovarian cancer, familial 2	2016-02-08	criteria provided, single submitter	clinical testing
Color	RCV000166938	SCV000683538	uncertain significance	Hereditary cancer-predisposing syndrome	2018-09-16	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
Breast Cancer Information Core (BIC) (BRCA2)	RCV000077298	SCV000146593	uncertain significance	Breast-ovarian cancer, familial 2	1998-06-22	no assertion criteria provided	clinical testing

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