rs145382097
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002990.5(CCL22):c.142C>A(p.Arg48Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000123 in 1,461,856 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002990.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCL22 | NM_002990.5 | c.142C>A | p.Arg48Ser | missense_variant | Exon 2 of 3 | ENST00000219235.5 | NP_002981.2 | |
CCL22 | XM_047434449.1 | c.181C>A | p.Arg61Ser | missense_variant | Exon 3 of 4 | XP_047290405.1 | ||
CCL22 | XM_047434450.1 | c.142C>A | p.Arg48Ser | missense_variant | Exon 3 of 4 | XP_047290406.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251464Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135910
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461856Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727232
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at