3-39332551-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005201.4(CCR8):c.220C>T(p.Leu74Phe) 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_005201.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCR8 | ENST00000326306.5 | c.220C>T | p.Leu74Phe | missense_variant | Exon 2 of 2 | 1 | NM_005201.4 | ENSP00000326432.4 | ||
CCR8 | ENST00000414803.1 | c.101-54C>T | intron_variant | Intron 2 of 2 | 1 | ENSP00000390104.1 | ||||
ENSG00000287780 | ENST00000655387.1 | n.370-39601G>A | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.220C>T (p.L74F) alteration is located in exon 2 (coding exon 1) of the CCR8 gene. This alteration results from a C to T substitution at nucleotide position 220, causing the leucine (L) at amino acid position 74 to be replaced by a phenylalanine (F). 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
Publications
No publications associated with this variant yet.