3-39333032-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005201.4(CCR8):c.701C>G(p.Thr234Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,770 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCR8 | ENST00000326306.5 | c.701C>G | p.Thr234Ser | missense_variant | Exon 2 of 2 | 1 | NM_005201.4 | ENSP00000326432.4 | ||
CCR8 | ENST00000414803.1 | c.*171C>G | 3_prime_UTR_variant | Exon 3 of 3 | 1 | ENSP00000390104.1 | ||||
ENSG00000287780 | ENST00000655387.1 | n.370-40082G>C | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250726Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135478
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461770Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727196
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.701C>G (p.T234S) alteration is located in exon 2 (coding exon 1) of the CCR8 gene. This alteration results from a C to G substitution at nucleotide position 701, causing the threonine (T) at amino acid position 234 to be replaced by a serine (S). 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