4-76022794-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001565.4(CXCL10):c.85C>A(p.Arg29Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,459,244 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R29C) has been classified as Benign.
Frequency
Consequence
NM_001565.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CXCL10 | NM_001565.4 | c.85C>A | p.Arg29Ser | missense_variant | 2/4 | ENST00000306602.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CXCL10 | ENST00000306602.3 | c.85C>A | p.Arg29Ser | missense_variant | 2/4 | 1 | NM_001565.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000809 AC: 2AN: 247090Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134286
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459244Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726078
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at