NM_133636.5:c.2627A>G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_133636.5(HELQ):āc.2627A>Gā(p.Tyr876Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000081 in 1,604,000 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_133636.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HELQ | NM_133636.5 | c.2627A>G | p.Tyr876Cys | missense_variant | Exon 13 of 18 | ENST00000295488.8 | NP_598375.3 | |
HELQ | NM_001297755.2 | c.2426A>G | p.Tyr809Cys | missense_variant | Exon 12 of 17 | NP_001284684.2 | ||
HELQ | NM_001297756.2 | c.1136A>G | p.Tyr379Cys | missense_variant | Exon 13 of 18 | NP_001284685.1 | ||
HELQ | NM_001297757.2 | c.995A>G | p.Tyr332Cys | missense_variant | Exon 12 of 17 | NP_001284686.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000828 AC: 2AN: 241480Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130856
GnomAD4 exome AF: 0.00000827 AC: 12AN: 1451810Hom.: 0 Cov.: 29 AF XY: 0.00000969 AC XY: 7AN XY: 722190
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at