rs766794441
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003355.3(UCP2):c.635-4_647delGCAGATGACCTCCCTTG(p.Asp212fs) variant causes a frameshift, splice acceptor, splice region, intron change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000173 in 1,614,124 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003355.3 frameshift, splice_acceptor, splice_region, intron
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.635-4_647delGCAGATGACCTCCCTTG | p.Asp212fs | frameshift_variant, splice_acceptor_variant, splice_region_variant, intron_variant | Exon 7 of 8 | ENST00000663595.2 | NP_003346.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152252Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 251124Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135762
GnomAD4 exome AF: 0.000175 AC: 256AN: 1461872Hom.: 0 AF XY: 0.000195 AC XY: 142AN XY: 727242
GnomAD4 genome AF: 0.000151 AC: 23AN: 152252Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74382
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant results in the deletion of part of exon 7 (c.635-4_647del) of the UCP2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in UCP2 cause disease. This variant is present in population databases (rs766794441, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with UCP2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at