Submissions for variant NM_000059.4(BRCA2):c.4731_4736delinsG (p.Leu1578fs)

dbSNP: rs276174846

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)	RCV000113338	SCV000783884	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2017-12-15	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics	RCV000223243	SCV000274379	pathogenic	Hereditary cancer-predisposing syndrome	2015-02-24	criteria provided, single submitter	clinical testing	The c.4731_4736delATTAGCinsG pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from the deletion of 6 nucleotides and the insertion of one nucleotide at positions 4731 to 4736 and causes a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113338	SCV000146477	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	1999-06-21	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496661	SCV000587722	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research