16-57415192-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_002987.3(CCL17):c.182C>T(p.Ala61Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002987.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCL17 | NM_002987.3 | c.182C>T | p.Ala61Val | missense_variant | Exon 3 of 4 | ENST00000219244.9 | NP_002978.1 | |
CCL17 | XM_017023530.2 | c.269C>T | p.Ala90Val | missense_variant | Exon 5 of 6 | XP_016879019.1 | ||
CCL17 | XM_011523256.3 | c.266C>T | p.Ala89Val | missense_variant | Exon 5 of 6 | XP_011521558.1 | ||
CCL17 | XM_047434448.1 | c.182C>T | p.Ala61Val | missense_variant | Exon 2 of 3 | XP_047290404.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1448760Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 721656
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.182C>T (p.A61V) alteration is located in exon 3 (coding exon 2) of the CCL17 gene. This alteration results from a C to T substitution at nucleotide position 182, causing the alanine (A) at amino acid position 61 to be replaced by a valine (V). 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