rs3736265
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The ENST00000264867.7(PPARGC1A):c.1835C>T(p.Thr612Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0656 in 1,613,862 control chromosomes in the GnomAD database, including 4,479 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 (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000264867.7 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.1835C>T | p.Thr612Met | missense_variant | 9/13 | ENST00000264867.7 | NP_037393.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PPARGC1A | ENST00000264867.7 | c.1835C>T | p.Thr612Met | missense_variant | 9/13 | 1 | NM_013261.5 | ENSP00000264867 | P1 | |
PPARGC1A | ENST00000613098.4 | c.1454C>T | p.Thr485Met | missense_variant | 8/12 | 1 | ENSP00000481498 | |||
PPARGC1A | ENST00000506055.5 | c.*1050C>T | 3_prime_UTR_variant, NMD_transcript_variant | 9/13 | 1 | ENSP00000423075 | ||||
PPARGC1A | ENST00000509702.5 | n.1875C>T | non_coding_transcript_exon_variant | 9/15 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0726 AC: 11040AN: 152076Hom.: 458 Cov.: 31
GnomAD3 exomes AF: 0.0860 AC: 21604AN: 251286Hom.: 1170 AF XY: 0.0873 AC XY: 11852AN XY: 135790
GnomAD4 exome AF: 0.0649 AC: 94876AN: 1461668Hom.: 4021 Cov.: 32 AF XY: 0.0668 AC XY: 48598AN XY: 727152
GnomAD4 genome AF: 0.0725 AC: 11040AN: 152194Hom.: 458 Cov.: 31 AF XY: 0.0779 AC XY: 5792AN XY: 74398
ClinVar
Submissions by phenotype
PPARGC1A-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 22, 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