11-73975105-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003355.3(UCP2):c.832C>T(p.Leu278Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,050 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003355.3 missense
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.832C>T | p.Leu278Phe | missense_variant | Exon 8 of 8 | ENST00000663595.2 | NP_003346.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UCP2 | ENST00000663595.2 | c.832C>T | p.Leu278Phe | missense_variant | Exon 8 of 8 | NM_003355.3 | ENSP00000499695.1 | |||
UCP2 | ENST00000310473.9 | c.832C>T | p.Leu278Phe | missense_variant | Exon 9 of 9 | 1 | ENSP00000312029.3 | |||
UCP2 | ENST00000536983.5 | c.651C>T | p.Phe217Phe | synonymous_variant | Exon 7 of 7 | 5 | ENSP00000441147.1 | |||
UCP2 | ENST00000544615.5 | n.751C>T | non_coding_transcript_exon_variant | Exon 5 of 5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152036Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249490Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134910
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461014Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 726758
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74248
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 278 of the UCP2 protein (p.Leu278Phe). This variant is present in population databases (rs764567556, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with UCP2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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