chr11-73975507-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003355.3(UCP2):c.799C>T(p.Arg267*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000422 in 1,610,956 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_003355.3 stop_gained
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 |
---|---|---|---|---|---|---|---|---|
UCP2 | NM_003355.3 | c.799C>T | p.Arg267* | stop_gained | Exon 7 of 8 | ENST00000663595.2 | NP_003346.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000559 AC: 14AN: 250564Hom.: 0 AF XY: 0.0000813 AC XY: 11AN XY: 135348
GnomAD4 exome AF: 0.0000452 AC: 66AN: 1458806Hom.: 0 Cov.: 32 AF XY: 0.0000455 AC XY: 33AN XY: 725288
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
DNA sequence analysis of the UCP2 gene demonstrated a sequence change, c.799C>T, which results in the creation of a premature stop codon at amino acid position 267, p.Arg267*. This sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated UCP2 protein with potentially abnormal function. This sequence change has not been previously described in patients with hyperinsulinism. This sequence change has been described in the gnomAD database with a population frequency of 0.0056% (dbSNP rs748009040). Due to the lack of functional studies that conclusively demonstrate the effect of this variant on protein function, the fact that this variant is present in a proportion of individuals in control populations, the clinical significance of the p.Arg267* change remains unknown at this time. -
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at