chr8-22048128-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The ENST00000359441.4(FGF17):c.530G>T(p.Arg177Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000656 in 152,366 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R177H) has been classified as Pathogenic.
Frequency
Consequence
ENST00000359441.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FGF17 | NM_003867.4 | c.530G>T | p.Arg177Leu | missense_variant | 5/5 | ENST00000359441.4 | NP_003858.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FGF17 | ENST00000359441.4 | c.530G>T | p.Arg177Leu | missense_variant | 5/5 | 1 | NM_003867.4 | ENSP00000352414.3 | ||
FGF17 | ENST00000518533.5 | c.497G>T | p.Arg166Leu | missense_variant | 5/5 | 1 | ENSP00000431041.1 | |||
FGF17 | ENST00000521709.1 | n.768G>T | non_coding_transcript_exon_variant | 3/3 | 3 | |||||
FGF17 | ENST00000524314.1 | n.1900G>T | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152248Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152366Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74502
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.