chr19-48758098-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019113.4(FGF21):c.508C>G(p.Leu170Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000102 in 1,611,972 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019113.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGF21 | NM_019113.4 | c.508C>G | p.Leu170Val | missense_variant | 4/4 | ENST00000593756.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGF21 | ENST00000593756.6 | c.508C>G | p.Leu170Val | missense_variant | 4/4 | 1 | NM_019113.4 | P1 | |
FGF21 | ENST00000222157.5 | c.508C>G | p.Leu170Val | missense_variant | 3/3 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000855 AC: 13AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000737 AC: 18AN: 244296Hom.: 0 AF XY: 0.0000750 AC XY: 10AN XY: 133346
GnomAD4 exome AF: 0.000103 AC: 151AN: 1459756Hom.: 0 Cov.: 32 AF XY: 0.0000992 AC XY: 72AN XY: 726142
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74422
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 17, 2024 | The c.508C>G (p.L170V) alteration is located in exon 3 (coding exon 3) of the FGF21 gene. This alteration results from a C to G substitution at nucleotide position 508, causing the leucine (L) at amino acid position 170 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at