rs987203346
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000183.3(HADHB):c.694G>A(p.Ala232Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,188 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A232S) has been classified as Uncertain significance.
Frequency
Consequence
NM_000183.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HADHB | NM_000183.3 | c.694G>A | p.Ala232Thr | missense_variant | Exon 9 of 16 | ENST00000317799.10 | NP_000174.1 | |
HADHB | NM_001281512.2 | c.649G>A | p.Ala217Thr | missense_variant | Exon 8 of 15 | NP_001268441.1 | ||
HADHB | NM_001281513.2 | c.628G>A | p.Ala210Thr | missense_variant | Exon 10 of 17 | NP_001268442.1 | ||
HADHB | XM_011532803.2 | c.694G>A | p.Ala232Thr | missense_variant | Exon 9 of 16 | XP_011531105.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251342Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135842
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1461188Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726974
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Mitochondrial trifunctional protein deficiency Uncertain:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at