rs368039089
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6BP7
The NM_003356.4(UCP3):c.873C>T(p.Phe291Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00007 in 1,614,062 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UCP3 | NM_003356.4 | c.873C>T | p.Phe291Phe | synonymous_variant | Exon 7 of 7 | ENST00000314032.9 | NP_003347.1 | |
UCP3 | XM_047427519.1 | c.873C>T | p.Phe291Phe | synonymous_variant | Exon 6 of 6 | XP_047283475.1 | ||
UCP3 | XR_007062495.1 | n.3163C>T | non_coding_transcript_exon_variant | Exon 7 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UCP3 | ENST00000314032.9 | c.873C>T | p.Phe291Phe | synonymous_variant | Exon 7 of 7 | 1 | NM_003356.4 | ENSP00000323740.4 | ||
UCP3 | ENST00000545271.1 | n.564C>T | splice_region_variant, non_coding_transcript_exon_variant | Exon 2 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152074Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251484Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135922
GnomAD4 exome AF: 0.0000711 AC: 104AN: 1461870Hom.: 0 Cov.: 30 AF XY: 0.0000536 AC XY: 39AN XY: 727242
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74388
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