chr19-51345274-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001985.3(ETFB):c.705C>T(p.Ala235=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000341 in 1,614,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A235A) has been classified as Likely benign.
Frequency
Consequence
NM_001985.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ETFB | NM_001985.3 | c.705C>T | p.Ala235= | synonymous_variant | 6/6 | ENST00000309244.9 | |
ETFB | NM_001014763.1 | c.978C>T | p.Ala326= | synonymous_variant | 5/5 | ||
ETFB | XM_024451418.2 | c.594C>T | p.Ala198= | synonymous_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ETFB | ENST00000309244.9 | c.705C>T | p.Ala235= | synonymous_variant | 6/6 | 1 | NM_001985.3 | P1 | |
ETFB | ENST00000354232.8 | c.978C>T | p.Ala326= | synonymous_variant | 5/5 | 1 | |||
ENST00000600974.1 | n.78+28G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
ETFB | ENST00000596253.1 | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251458Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135910
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461886Hom.: 0 Cov.: 32 AF XY: 0.0000371 AC XY: 27AN XY: 727242
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74294
ClinVar
Submissions by phenotype
Multiple acyl-CoA dehydrogenase deficiency Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 18, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at