rs7732671
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_133263.4(PPARGC1B):āc.607G>Cā(p.Ala203Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0871 in 1,547,582 control chromosomes in the GnomAD database, including 6,416 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 (ā ).
Frequency
Consequence
NM_133263.4 missense
Scores
Clinical Significance
Conservation
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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.607G>C | p.Ala203Pro | 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.607G>C | p.Ala203Pro | missense_variant | 5/12 | 1 | NM_133263.4 | ENSP00000312649.5 | ||
PPARGC1B | ENST00000394320.7 | c.607G>C | p.Ala203Pro | missense_variant | 5/11 | 1 | ENSP00000377855.3 | |||
PPARGC1B | ENST00000360453.8 | c.490G>C | p.Ala164Pro | missense_variant | 4/11 | 1 | ENSP00000353638.4 | |||
PPARGC1B | ENST00000403750.5 | c.415G>C | p.Ala139Pro | missense_variant | 4/11 | 2 | ENSP00000384403.1 |
Frequencies
GnomAD3 genomes AF: 0.109 AC: 16510AN: 152060Hom.: 1009 Cov.: 32
GnomAD3 exomes AF: 0.0939 AC: 19531AN: 207962Hom.: 1122 AF XY: 0.0905 AC XY: 10043AN XY: 110986
GnomAD4 exome AF: 0.0848 AC: 118292AN: 1395404Hom.: 5401 Cov.: 31 AF XY: 0.0840 AC XY: 57570AN XY: 685398
GnomAD4 genome AF: 0.109 AC: 16545AN: 152178Hom.: 1015 Cov.: 32 AF XY: 0.109 AC XY: 8134AN XY: 74388
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | This variant is associated with the following publications: (PMID: 15863669, 19653005, 16704985) - |
PPARGC1B polymorphism Benign:1
Benign, no assertion criteria provided | literature only | OMIM | May 01, 2005 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at