rs28935769
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_000925.4(PDHB):āc.395A>Gā(p.Tyr132Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,670 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. Y132Y) has been classified as Likely benign.
Frequency
Consequence
NM_000925.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDHB | NM_000925.4 | c.395A>G | p.Tyr132Cys | missense_variant | 6/10 | ENST00000302746.11 | |
PDHB | NM_001173468.2 | c.395A>G | p.Tyr132Cys | missense_variant | 6/11 | ||
PDHB | NM_001315536.2 | c.341A>G | p.Tyr114Cys | missense_variant | 5/9 | ||
PDHB | NR_033384.2 | n.501A>G | non_coding_transcript_exon_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDHB | ENST00000302746.11 | c.395A>G | p.Tyr132Cys | missense_variant | 6/10 | 1 | NM_000925.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461670Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727164
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Pyruvate dehydrogenase E1-beta deficiency Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jul 01, 2004 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at