10-13222182-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_145314.3(UCMA):c.338G>A(p.Arg113Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000905 in 1,613,800 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R113W) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UCMA | NM_145314.3 | c.338G>A | p.Arg113Gln | missense_variant | 5/5 | ENST00000378681.8 | |
UCMA | NM_001303118.2 | c.242G>A | p.Arg81Gln | missense_variant | 4/4 | ||
UCMA | NM_001303119.2 | c.176G>A | p.Arg59Gln | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UCMA | ENST00000378681.8 | c.338G>A | p.Arg113Gln | missense_variant | 5/5 | 1 | NM_145314.3 | P1 | |
UCMA | ENST00000463405.2 | c.272G>A | p.Arg91Gln | missense_variant | 4/4 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152184Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000559 AC: 14AN: 250510Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135356
GnomAD4 exome AF: 0.0000958 AC: 140AN: 1461616Hom.: 0 Cov.: 30 AF XY: 0.000109 AC XY: 79AN XY: 727104
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152184Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2022 | The c.338G>A (p.R113Q) alteration is located in exon 5 (coding exon 5) of the UCMA gene. This alteration results from a G to A substitution at nucleotide position 338, causing the arginine (R) at amino acid position 113 to be replaced by a glutamine (Q). 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