chr8-22048158-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM2PM5BP4_Moderate
The NM_003867.4(FGF17):c.560A>C(p.Asn187Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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. N187S) has been classified as Pathogenic.
Frequency
Consequence
NM_003867.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGF17 | NM_003867.4 | c.560A>C | p.Asn187Thr | missense_variant | 5/5 | ENST00000359441.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGF17 | ENST00000359441.4 | c.560A>C | p.Asn187Thr | missense_variant | 5/5 | 1 | NM_003867.4 | P4 | |
FGF17 | ENST00000518533.5 | c.527A>C | p.Asn176Thr | missense_variant | 5/5 | 1 | A1 | ||
FGF17 | ENST00000521709.1 | n.798A>C | non_coding_transcript_exon_variant | 3/3 | 3 | ||||
FGF17 | ENST00000524314.1 | n.1930A>C | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
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.