Submissions for variant NM_000059.4(BRCA2):c.244A>T (p.Lys82Ter)

dbSNP: rs397507628

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000257796	SCV000324075	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2016-10-18	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000257796	SCV000326704	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV004589534	SCV005078326	pathogenic	not provided	2023-06-06	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed in an individual with breast cancer (Muller et al., 2011); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 472A>T; This variant is associated with the following publications: (PMID: 21939546, 29446198)
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496688	SCV000587542	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research