rs104894677
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_001985.3(ETFB):āc.491G>Cā(p.Arg164Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,612,794 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R164Q) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001985.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ETFB | NM_001985.3 | c.491G>C | p.Arg164Pro | missense_variant | 5/6 | ENST00000309244.9 | |
ETFB | NM_001014763.1 | c.764G>C | p.Arg255Pro | missense_variant | 4/5 | ||
ETFB | XM_024451418.2 | c.380G>C | p.Arg127Pro | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ETFB | ENST00000309244.9 | c.491G>C | p.Arg164Pro | missense_variant | 5/6 | 1 | NM_001985.3 | P1 | |
ENST00000600974.1 | n.78+1760C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460646Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726422
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at