1-7853370-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000054668.5(UTS2):c.62C>T(p.Thr21Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.547 in 1,613,688 control chromosomes in the GnomAD database, including 245,554 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000054668.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UTS2 | NM_021995.2 | c.62C>T | p.Thr21Met | missense_variant | 1/5 | ||
UTS2 | XM_011540537.3 | c.62C>T | p.Thr21Met | missense_variant | 2/6 | ||
UTS2 | XM_011540538.2 | c.-181C>T | 5_prime_UTR_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UTS2 | ENST00000054668.5 | c.62C>T | p.Thr21Met | missense_variant | 1/5 | 1 | A2 | ||
UTS2 | ENST00000377516.6 | c.-179C>T | 5_prime_UTR_variant | 1/7 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.519 AC: 78860AN: 151906Hom.: 20972 Cov.: 32
GnomAD3 exomes AF: 0.513 AC: 128890AN: 251314Hom.: 34877 AF XY: 0.529 AC XY: 71877AN XY: 135840
GnomAD4 exome AF: 0.550 AC: 804044AN: 1461664Hom.: 224569 Cov.: 50 AF XY: 0.555 AC XY: 403465AN XY: 727144
GnomAD4 genome ? AF: 0.519 AC: 78902AN: 152024Hom.: 20985 Cov.: 32 AF XY: 0.514 AC XY: 38207AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at