rs4264746
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000925.4(PDHB):c.435A>T(p.Arg145Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R145R) has been classified as Benign.
Frequency
Consequence
NM_000925.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PDHB | NM_000925.4 | c.435A>T | p.Arg145Ser | missense_variant | 6/10 | ENST00000302746.11 | NP_000916.2 | |
PDHB | NM_001315536.2 | c.381A>T | p.Arg127Ser | missense_variant | 5/9 | NP_001302465.1 | ||
PDHB | NM_001173468.2 | c.404-23A>T | intron_variant | NP_001166939.1 | ||||
PDHB | NR_033384.2 | n.541A>T | non_coding_transcript_exon_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PDHB | ENST00000302746.11 | c.435A>T | p.Arg145Ser | missense_variant | 6/10 | 1 | NM_000925.4 | ENSP00000307241.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 54
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at