Submissions for variant NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr)

dbSNP: rs80359040

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000709333	SCV000838865	uncertain significance	Hereditary breast ovarian cancer syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Invitae	RCV000709333	SCV001564942	uncertain significance	Hereditary breast ovarian cancer syndrome	2018-04-15	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with tyrosine at codon 2679 of the BRCA2 protein (p.Asp2679Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) and  Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 52480). Experimental studies have shown that this missense change leads to aberrant mRNA splicing (PMID: 28339459, 20215541, 23108138). 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.
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113858	SCV000147254	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2002-06-20	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001689603	SCV001905885	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001689603	SCV001954004	pathogenic	not provided		no assertion criteria provided	clinical testing