chr17-36013769-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005064.6(CCL23):c.277A>G(p.Ser93Gly) 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 benign outcome for this variant. 12/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005064.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCL23 | NM_005064.6 | c.277A>G | p.Ser93Gly | missense_variant | 3/4 | ENST00000615050.2 | |
CCL23 | NM_145898.4 | c.226A>G | p.Ser76Gly | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCL23 | ENST00000615050.2 | c.277A>G | p.Ser93Gly | missense_variant | 3/4 | 1 | NM_005064.6 | P2 | |
CCL23 | ENST00000612516.4 | c.226A>G | p.Ser76Gly | missense_variant | 3/4 | 1 | A2 | ||
CCL23 | ENST00000613876.1 | c.13A>G | p.Ser5Gly | missense_variant, NMD_transcript_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2021 | The c.277A>G (p.S93G) alteration is located in exon 3 (coding exon 3) of the CCL23 gene. This alteration results from a A to G substitution at nucleotide position 277, causing the serine (S) at amino acid position 93 to be replaced by a glycine (G). 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.