chr10-133230482-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003577.3(UTF1):c.194C>T(p.Ala65Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000068 in 1,441,218 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003577.3 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 | UniProt |
---|---|---|---|---|---|---|---|
UTF1 | NM_003577.3 | c.194C>T | p.Ala65Val | missense_variant | 1/2 | ENST00000304477.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UTF1 | ENST00000304477.3 | c.194C>T | p.Ala65Val | missense_variant | 1/2 | 1 | NM_003577.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000793 AC: 12AN: 151260Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000337 AC: 24AN: 71170Hom.: 1 AF XY: 0.000388 AC XY: 16AN XY: 41250
GnomAD4 exome AF: 0.0000667 AC: 86AN: 1289852Hom.: 1 Cov.: 35 AF XY: 0.0000707 AC XY: 45AN XY: 636292
GnomAD4 genome ? AF: 0.0000793 AC: 12AN: 151366Hom.: 0 Cov.: 32 AF XY: 0.0000676 AC XY: 5AN XY: 73982
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 26, 2022 | The c.194C>T (p.A65V) alteration is located in exon 1 (coding exon 1) of the UTF1 gene. This alteration results from a C to T substitution at nucleotide position 194, causing the alanine (A) at amino acid position 65 to be replaced by a valine (V). 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