rs782393002
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_031407.7(HUWE1):āc.9581T>Gā(p.Phe3194Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000273 in 1,097,785 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_031407.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HUWE1 | NM_031407.7 | c.9581T>G | p.Phe3194Cys | missense_variant | 67/84 | ENST00000262854.11 | NP_113584.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HUWE1 | ENST00000262854.11 | c.9581T>G | p.Phe3194Cys | missense_variant | 67/84 | 1 | NM_031407.7 | ENSP00000262854.6 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.0000109 AC: 2AN: 183065Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67587
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1097785Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363147
GnomAD4 genome Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at