chr10-13222183-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145314.3(UCMA):c.337C>T(p.Arg113Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,613,744 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R113Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_145314.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UCMA | NM_145314.3 | c.337C>T | p.Arg113Trp | missense_variant | 5/5 | ENST00000378681.8 | |
UCMA | NM_001303118.2 | c.241C>T | p.Arg81Trp | missense_variant | 4/4 | ||
UCMA | NM_001303119.2 | c.175C>T | p.Arg59Trp | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UCMA | ENST00000378681.8 | c.337C>T | p.Arg113Trp | missense_variant | 5/5 | 1 | NM_145314.3 | P1 | |
UCMA | ENST00000463405.2 | c.271C>T | p.Arg91Trp | missense_variant | 4/4 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152154Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250470Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135358
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461590Hom.: 0 Cov.: 30 AF XY: 0.0000234 AC XY: 17AN XY: 727088
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152154Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 4AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 30, 2023 | The c.337C>T (p.R113W) alteration is located in exon 5 (coding exon 5) of the UCMA gene. This alteration results from a C to T substitution at nucleotide position 337, causing the arginine (R) at amino acid position 113 to be replaced by a tryptophan (W). 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