4-76022400-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001565.4(CXCL10):āc.244A>Gā(p.Ile82Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000026 in 1,613,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001565.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CXCL10 | NM_001565.4 | c.244A>G | p.Ile82Val | missense_variant | 3/4 | ENST00000306602.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CXCL10 | ENST00000306602.3 | c.244A>G | p.Ile82Val | missense_variant | 3/4 | 1 | NM_001565.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000722 AC: 11AN: 152250Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 8AN: 249240Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135256
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461370Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 726992
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at