ENST00000354232.8:c.235G>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The ENST00000354232.8(ETFB):c.235G>A(p.Val79Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00466 in 1,613,986 control chromosomes in the GnomAD database, including 27 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
ENST00000354232.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ETFB | NM_001985.3 | c.58-96G>A | intron_variant | Intron 1 of 5 | ENST00000309244.9 | NP_001976.1 | ||
ETFB | NM_001014763.1 | c.235G>A | p.Val79Ile | missense_variant | Exon 1 of 5 | NP_001014763.1 | ||
ETFB | XM_024451418.2 | c.-54-96G>A | intron_variant | Intron 1 of 5 | XP_024307186.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00359 AC: 547AN: 152192Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00451 AC: 1125AN: 249426Hom.: 4 AF XY: 0.00453 AC XY: 611AN XY: 134984
GnomAD4 exome AF: 0.00477 AC: 6978AN: 1461676Hom.: 23 Cov.: 32 AF XY: 0.00461 AC XY: 3349AN XY: 727142
GnomAD4 genome AF: 0.00359 AC: 547AN: 152310Hom.: 4 Cov.: 32 AF XY: 0.00367 AC XY: 273AN XY: 74482
ClinVar
Submissions by phenotype
not provided Benign:3
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ETFB: BP4, BS2 -
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Multiple acyl-CoA dehydrogenase deficiency Benign:2
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not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
ETFB-related disorder Benign:1
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