rs17572019
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_133263.4(PPARGC1B):c.835G>A(p.Val279Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0805 in 1,613,074 control chromosomes in the GnomAD database, including 5,688 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_133263.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPARGC1B | NM_133263.4 | c.835G>A | p.Val279Ile | missense_variant | 5/12 | ENST00000309241.10 | NP_573570.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PPARGC1B | ENST00000309241.10 | c.835G>A | p.Val279Ile | missense_variant | 5/12 | 1 | NM_133263.4 | ENSP00000312649 | P2 | |
PPARGC1B | ENST00000394320.7 | c.835G>A | p.Val279Ile | missense_variant | 5/11 | 1 | ENSP00000377855 | A2 | ||
PPARGC1B | ENST00000360453.8 | c.718G>A | p.Val240Ile | missense_variant | 4/11 | 1 | ENSP00000353638 | A2 | ||
PPARGC1B | ENST00000403750.5 | c.643G>A | p.Val215Ile | missense_variant | 4/11 | 2 | ENSP00000384403 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0703 AC: 10695AN: 152114Hom.: 476 Cov.: 32
GnomAD3 exomes AF: 0.0854 AC: 21193AN: 248096Hom.: 1108 AF XY: 0.0841 AC XY: 11328AN XY: 134736
GnomAD4 exome AF: 0.0816 AC: 119206AN: 1460842Hom.: 5212 Cov.: 32 AF XY: 0.0812 AC XY: 59010AN XY: 726694
GnomAD4 genome AF: 0.0702 AC: 10694AN: 152232Hom.: 476 Cov.: 32 AF XY: 0.0712 AC XY: 5303AN XY: 74432
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at