rs17011368
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000379.4(XDH):c.2107A>G(p.Ile703Val) variant causes a missense change. The variant allele was found at a frequency of 0.0364 in 1,613,932 control chromosomes in the GnomAD database, including 1,453 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I703K) has been classified as Uncertain significance.
Frequency
Consequence
NM_000379.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
XDH | NM_000379.4 | c.2107A>G | p.Ile703Val | missense_variant | 20/36 | ENST00000379416.4 | |
XDH | XM_011533095.3 | c.2104A>G | p.Ile702Val | missense_variant | 20/36 | ||
XDH | XM_011533096.3 | c.2107A>G | p.Ile703Val | missense_variant | 20/29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
XDH | ENST00000379416.4 | c.2107A>G | p.Ile703Val | missense_variant | 20/36 | 1 | NM_000379.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0547 AC: 8320AN: 152172Hom.: 322 Cov.: 32
GnomAD3 exomes AF: 0.0338 AC: 8510AN: 251456Hom.: 238 AF XY: 0.0331 AC XY: 4499AN XY: 135902
GnomAD4 exome AF: 0.0345 AC: 50423AN: 1461642Hom.: 1131 Cov.: 32 AF XY: 0.0340 AC XY: 24744AN XY: 727136
GnomAD4 genome ? AF: 0.0547 AC: 8336AN: 152290Hom.: 322 Cov.: 32 AF XY: 0.0534 AC XY: 3976AN XY: 74484
ClinVar
Submissions by phenotype
Hereditary xanthinuria type 1 Benign:2
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Dec 05, 2021 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 16, 2020 | This variant is associated with the following publications: (PMID: 27703193, 18300946) - |
Xanthinuria type II Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at