rs1346644
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000379.4(XDH):c.101-35C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,266 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000379.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
XDH | NM_000379.4 | c.101-35C>T | intron_variant | Intron 2 of 35 | ENST00000379416.4 | NP_000370.2 | ||
XDH | XM_011533095.3 | c.101-35C>T | intron_variant | Intron 2 of 35 | XP_011531397.1 | |||
XDH | XM_011533096.3 | c.101-35C>T | intron_variant | Intron 2 of 28 | XP_011531398.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457266Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 725066
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.