rs28999113
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 9P and 1B. PM1PM2PP3_StrongPP5BS1_Supporting
The NM_000485.3(APRT):āc.407T>Cā(p.Met136Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000363 in 1,459,600 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M136V) has been classified as Uncertain significance.
Frequency
Consequence
NM_000485.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APRT | NM_000485.3 | c.407T>C | p.Met136Thr | missense_variant | 5/5 | ENST00000378364.8 | |
APRT | NM_001030018.2 | c.401-128T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APRT | ENST00000378364.8 | c.407T>C | p.Met136Thr | missense_variant | 5/5 | 1 | NM_000485.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248054Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134652
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1459600Hom.: 1 Cov.: 31 AF XY: 0.0000413 AC XY: 30AN XY: 726098
GnomAD4 genome ? Cov.: 34
ClinVar
Submissions by phenotype
Adenine phosphoribosyltransferase deficiency Pathogenic:1Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Pathogenic, no assertion criteria provided | literature only | APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland | Sep 01, 2020 | - - |
APRT deficiency, Japanese type Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Nov 01, 1996 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at