ClinVar Miner

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

gnomAD frequency: 0.26099  dbSNP: rs351855
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Total submissions: 4
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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.
PreventionGenetics, part of Exact Sciences RCV003974837 SCV004799271 benign FGFR4-related disorder 2019-10-17 criteria provided, single submitter 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).
OMIM RCV000017723 SCV000038000 pathogenic Cancer progression and tumor cell motility 2002-02-01 no assertion criteria provided literature only

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