13-27978257-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001105577.2(URAD):c.371G>A(p.Arg124His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000818 in 1,441,906 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001105577.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000189 AC: 1AN: 52790Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 31338
GnomAD4 exome AF: 0.0000861 AC: 111AN: 1289742Hom.: 1 Cov.: 29 AF XY: 0.0000789 AC XY: 50AN XY: 633360
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.371G>A (p.R124H) alteration is located in exon 2 (coding exon 2) of the URAD gene. This alteration results from a G to A substitution at nucleotide position 371, causing the arginine (R) at amino acid position 124 to be replaced by a histidine (H). 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