Submissions for variant NM_002878.4(RAD51D):c.144+1dup

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV003164601	SCV003855300	likely pathogenic	Hereditary cancer-predisposing syndrome	2022-12-11	criteria provided, single submitter	clinical testing	The c.144+1dupG intronic variant results from a duplication of one nucleotide at nucleotide position 144+1 after coding exon 2 of the RAD51D gene. This variant was present in 0/1005 Japanese pancreatic cancer patients and in 3/23705 controls (Mizukami K et al. EBioMedicine, 2020 Oct;60:103033). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Myriad Genetics, Inc.	RCV004067540	SCV004933544	likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4	2024-01-04	criteria provided, single submitter	clinical testing	This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
Laboratory for Genotyping Development, RIKEN	RCV003164602	SCV002758260	pathogenic	Gastric cancer	2021-07-01	no assertion criteria provided	research