NM_003356.4:c.862G>A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_003356.4(UCP3):c.862G>A(p.Val288Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000176 in 1,614,026 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 Likely benign (no stars).
Frequency
Consequence
NM_003356.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UCP3 | NM_003356.4 | c.862G>A | p.Val288Met | missense_variant | Exon 7 of 7 | ENST00000314032.9 | NP_003347.1 | |
UCP3 | XM_047427519.1 | c.862G>A | p.Val288Met | missense_variant | Exon 6 of 6 | XP_047283475.1 | ||
UCP3 | XR_007062495.1 | n.3152G>A | non_coding_transcript_exon_variant | Exon 7 of 7 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000421 AC: 64AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000382 AC: 96AN: 251478Hom.: 0 AF XY: 0.000309 AC XY: 42AN XY: 135920
GnomAD4 exome AF: 0.000150 AC: 220AN: 1461884Hom.: 1 Cov.: 30 AF XY: 0.000132 AC XY: 96AN XY: 727242
GnomAD4 genome AF: 0.000421 AC: 64AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.000753 AC XY: 56AN XY: 74334
ClinVar
Submissions by phenotype
UCP3-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at