Submissions for variant NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg)

gnomAD frequency: 0.26099  dbSNP: rs351855

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001196704	SCV001367335	uncertain significance	See cases	2019-10-17	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
H3Africa Consortium	RCV001777142	SCV002014630	benign	not specified	2020-10-28	criteria provided, single submitter	research	While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.172, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
OMIM	RCV000017723	SCV000038000	pathogenic	Cancer progression and tumor cell motility	2002-02-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003974837	SCV004799271	benign	FGFR4-related disorder	2019-10-17	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).