Submissions for variant NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)

dbSNP: rs886040494

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000257267	SCV000324183	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	RCV000257267	SCV000326907	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-10-02	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000408764	SCV001440704	pathogenic	Familial cancer of breast	2019-01-01	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237810	SCV002010377	pathogenic	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000257267	SCV003804671	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2023-06-12	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PS4_MOD,PM2_SUP
Department of Human Genetics, Hannover Medical School	RCV004567815	SCV005050119	pathogenic	Pancreatic cancer, susceptibility to, 2	2024-06-10	criteria provided, single submitter	clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV000408764	SCV000484935	likely pathogenic	Familial cancer of breast		no assertion criteria provided	clinical testing