rs1556948950
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_031407.7(HUWE1):c.6485G>C(p.Arg2162Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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. R2162W) has been classified as Uncertain significance.
Frequency
Consequence
NM_031407.7 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HUWE1 | NM_031407.7 | c.6485G>C | p.Arg2162Pro | missense_variant | 48/84 | ENST00000262854.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HUWE1 | ENST00000262854.11 | c.6485G>C | p.Arg2162Pro | missense_variant | 48/84 | 1 | NM_031407.7 | P2 | |
HUWE1 | ENST00000342160.7 | c.6485G>C | p.Arg2162Pro | missense_variant | 47/83 | 5 | P2 | ||
HUWE1 | ENST00000612484.4 | c.6458G>C | p.Arg2153Pro | missense_variant | 45/81 | 5 | A2 | ||
HUWE1 | ENST00000704099.1 | c.6482G>C | p.Arg2161Pro | missense_variant | 47/83 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 24
ClinVar
Submissions by phenotype
Blepharophimosis;C0018817:Atrial septal defect;C0018818:Ventricular septal defect;C0020676:Hypothyroidism;C0424503:Abnormal facial shape;C1837397:Severe global developmental delay;C3665347:Visual impairment;C4024890:Excessive wrinkled skin Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Centre for Mendelian Genomics, University Medical Centre Ljubljana | Jan 01, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at