4-76035093-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005409.5(CXCL11):āc.215A>Gā(p.Gln72Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000206 in 1,601,472 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005409.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CXCL11 | NM_005409.5 | c.215A>G | p.Gln72Arg | missense_variant | 3/4 | ENST00000306621.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CXCL11 | ENST00000306621.8 | c.215A>G | p.Gln72Arg | missense_variant | 3/4 | 1 | NM_005409.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000192 AC: 29AN: 151308Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000187 AC: 47AN: 251172Hom.: 0 AF XY: 0.000214 AC XY: 29AN XY: 135752
GnomAD4 exome AF: 0.000208 AC: 301AN: 1450164Hom.: 0 Cov.: 35 AF XY: 0.000238 AC XY: 172AN XY: 721394
GnomAD4 genome AF: 0.000192 AC: 29AN: 151308Hom.: 0 Cov.: 34 AF XY: 0.000149 AC XY: 11AN XY: 73912
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at