Submissions for variant NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)

dbSNP: rs80359637

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)	RCV000113090	SCV000300293	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.
Counsyl	RCV000113090	SCV000220915	likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2014-11-26	criteria provided, single submitter	literature only
Ambry Genetics	RCV000509918	SCV000608182	pathogenic	Hereditary cancer-predisposing syndrome	2016-07-09	criteria provided, single submitter	clinical testing	The c.71_96del26 pathogenic mutation, located in coding exon 2 of the BRCA2 gene, results from a deletion of 26 nucleotides at nucleotide positions 71 to 96, causing a translational frameshift with a predicted alternate stop codon (p.L24*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113090	SCV000146106	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	1999-12-30	no assertion criteria provided	clinical testing