chr3-191282110-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_198152.5(UTS2B):āc.80A>Gā(p.His27Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,613,272 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_198152.5 missense
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UTS2B | NM_198152.5 | c.80A>G | p.His27Arg | missense_variant | 5/9 | ENST00000340524.10 | NP_937795.2 | |
UTS2B | XM_017006091.2 | c.80A>G | p.His27Arg | missense_variant | 4/8 | XP_016861580.1 | ||
UTS2B | XM_011512631.3 | c.80A>G | p.His27Arg | missense_variant | 4/8 | XP_011510933.1 | ||
UTS2B | XM_047447899.1 | c.80A>G | p.His27Arg | missense_variant | 4/8 | XP_047303855.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UTS2B | ENST00000340524.10 | c.80A>G | p.His27Arg | missense_variant | 5/9 | 2 | NM_198152.5 | ENSP00000340526 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250998Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135690
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461074Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 28AN XY: 726866
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 17, 2021 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at