4-140563342-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021833.5(UCP1):c.502G>A(p.Glu168Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000263 in 1,613,998 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021833.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UCP1 | NM_021833.5 | c.502G>A | p.Glu168Lys | missense_variant | Exon 3 of 6 | ENST00000262999.4 | NP_068605.1 | |
UCP1 | XM_005263206.4 | c.499G>A | p.Glu167Lys | missense_variant | Exon 3 of 6 | XP_005263263.1 | ||
UCP1 | XM_011532228.3 | c.502G>A | p.Glu168Lys | missense_variant | Exon 3 of 6 | XP_011530530.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000355 AC: 54AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000513 AC: 129AN: 251482Hom.: 1 AF XY: 0.000500 AC XY: 68AN XY: 135914
GnomAD4 exome AF: 0.000253 AC: 370AN: 1461874Hom.: 1 Cov.: 34 AF XY: 0.000249 AC XY: 181AN XY: 727238
GnomAD4 genome AF: 0.000355 AC: 54AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.000431 AC XY: 32AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.502G>A (p.E168K) alteration is located in exon 3 (coding exon 3) of the UCP1 gene. This alteration results from a G to A substitution at nucleotide position 502, causing the glutamic acid (E) at amino acid position 168 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at