NM_001365788.1:c.1033C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001365788.1(ACOT6):c.1033C>T(p.His345Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,888 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001365788.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACOT6 | NM_001365788.1 | c.1033C>T | p.His345Tyr | missense_variant | Exon 3 of 3 | ENST00000645972.2 | NP_001352717.1 | |
ACOT6 | NM_001037162.1 | c.391C>T | p.His131Tyr | missense_variant | Exon 2 of 2 | NP_001032239.1 | ||
ACOT6 | NM_001365789.1 | c.391C>T | p.His131Tyr | missense_variant | Exon 4 of 4 | NP_001352718.1 | ||
HEATR4 | XM_047431370.1 | c.-73+14055G>A | intron_variant | Intron 1 of 16 | XP_047287326.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727244
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.391C>T (p.H131Y) alteration is located in exon 2 (coding exon 2) of the ACOT6 gene. This alteration results from a C to T substitution at nucleotide position 391, causing the histidine (H) at amino acid position 131 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.