NM_002990.5:c.142C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002990.5(CCL22):c.142C>T(p.Arg48Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,614,106 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002990.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCL22 | NM_002990.5 | c.142C>T | p.Arg48Cys | missense_variant | Exon 2 of 3 | ENST00000219235.5 | NP_002981.2 | |
CCL22 | XM_047434449.1 | c.181C>T | p.Arg61Cys | missense_variant | Exon 3 of 4 | XP_047290405.1 | ||
CCL22 | XM_047434450.1 | c.142C>T | p.Arg48Cys | missense_variant | Exon 3 of 4 | XP_047290406.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251464Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135910
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1461856Hom.: 0 Cov.: 32 AF XY: 0.0000385 AC XY: 28AN XY: 727232
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.142C>T (p.R48C) alteration is located in exon 2 (coding exon 2) of the CCL22 gene. This alteration results from a C to T substitution at nucleotide position 142, causing the arginine (R) at amino acid position 48 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at