chr5-149832947-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_133263.4(PPARGC1B):c.874C>G(p.Arg292Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000821 in 1,460,938 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R292S) has been classified as Benign.
Frequency
Consequence
NM_133263.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPARGC1B | NM_133263.4 | c.874C>G | p.Arg292Gly | missense_variant | 5/12 | ENST00000309241.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPARGC1B | ENST00000309241.10 | c.874C>G | p.Arg292Gly | missense_variant | 5/12 | 1 | NM_133263.4 | P2 | |
PPARGC1B | ENST00000394320.7 | c.874C>G | p.Arg292Gly | missense_variant | 5/11 | 1 | A2 | ||
PPARGC1B | ENST00000360453.8 | c.757C>G | p.Arg253Gly | missense_variant | 4/11 | 1 | A2 | ||
PPARGC1B | ENST00000403750.5 | c.682C>G | p.Arg228Gly | missense_variant | 4/11 | 2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248750Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134986
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1460938Hom.: 0 Cov.: 32 AF XY: 0.00000826 AC XY: 6AN XY: 726752
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at