rs8192678
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_013261.5(PPARGC1A):c.1444G>A(p.Gly482Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.325 in 1,613,718 control chromosomes in the GnomAD database, including 88,971 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_013261.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPARGC1A | NM_013261.5 | c.1444G>A | p.Gly482Ser | missense_variant | 8/13 | ENST00000264867.7 | NP_037393.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PPARGC1A | ENST00000264867.7 | c.1444G>A | p.Gly482Ser | missense_variant | 8/13 | 1 | NM_013261.5 | ENSP00000264867 | P1 | |
PPARGC1A | ENST00000613098.4 | c.1063G>A | p.Gly355Ser | missense_variant | 7/12 | 1 | ENSP00000481498 | |||
PPARGC1A | ENST00000506055.5 | c.*659G>A | 3_prime_UTR_variant, NMD_transcript_variant | 8/13 | 1 | ENSP00000423075 | ||||
PPARGC1A | ENST00000509702.5 | n.1484G>A | non_coding_transcript_exon_variant | 8/15 | 5 |
Frequencies
GnomAD3 genomes AF: 0.263 AC: 39997AN: 151906Hom.: 6228 Cov.: 32
GnomAD3 exomes AF: 0.309 AC: 77425AN: 250648Hom.: 12728 AF XY: 0.314 AC XY: 42497AN XY: 135426
GnomAD4 exome AF: 0.331 AC: 484463AN: 1461694Hom.: 82752 Cov.: 55 AF XY: 0.330 AC XY: 240299AN XY: 727168
GnomAD4 genome AF: 0.263 AC: 39981AN: 152024Hom.: 6219 Cov.: 32 AF XY: 0.262 AC XY: 19498AN XY: 74282
ClinVar
Submissions by phenotype
PPARGC1A-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at