Submissions for variant NM_000059.4(BRCA2):c.8405del (p.Pro2802fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002445842	SCV002677750	pathogenic	Hereditary cancer-predisposing syndrome	2020-08-24	criteria provided, single submitter	clinical testing	The c.8405delC pathogenic mutation, located in coding exon 18 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 8405, causing a translational frameshift with a predicted alternate stop codon (p.P2802Lfs*19). 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003103501	SCV003242479	pathogenic	Hereditary breast ovarian cancer syndrome	2022-10-26	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro2802Leufs*19) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic.