rs351855
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_213647.3(FGFR4):c.1162G>A(p.Gly388Arg) variant causes a missense change. The variant allele was found at a frequency of 0.303 in 1,612,462 control chromosomes in the GnomAD database, including 76,363 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_213647.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.268 AC: 40763AN: 151936Hom.: 6207 Cov.: 33
GnomAD3 exomes AF: 0.327 AC: 80930AN: 247408Hom.: 14006 AF XY: 0.325 AC XY: 43607AN XY: 134080
GnomAD4 exome AF: 0.306 AC: 447158AN: 1460408Hom.: 70156 Cov.: 60 AF XY: 0.307 AC XY: 223241AN XY: 726378
GnomAD4 genome AF: 0.268 AC: 40785AN: 152054Hom.: 6207 Cov.: 33 AF XY: 0.272 AC XY: 20216AN XY: 74304
ClinVar
Submissions by phenotype
Cancer progression and tumor cell motility Pathogenic:1
- -
See cases Uncertain:1
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. -
not specified Benign:1
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. -
FGFR4-related disorder Benign:1
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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at