Submissions for variant NM_000059.4(BRCA2):c.6509_6510del (p.Lys2170fs)

dbSNP: rs80359600

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000113601	SCV000301061	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2016-09-08	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	RCV000113601	SCV000327448	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496934	SCV002161343	pathogenic	Hereditary breast ovarian cancer syndrome	2021-02-07	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Lys2170Serfs*5) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 52119). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV003473380	SCV004211789	pathogenic	Familial cancer of breast	2023-10-30	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113601	SCV000146874	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2002-05-29	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496934	SCV000587855	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research