16-69952107-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_001370523.4(CLEC18A):c.197C>T(p.Ala66Val) variant causes a missense change. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001370523.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLEC18A | NM_001370523.4 | c.197C>T | p.Ala66Val | missense_variant | Exon 2 of 12 | ENST00000288040.11 | NP_001357452.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 89044Hom.: 0 Cov.: 12 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000124 AC: 6AN: 485410Hom.: 0 Cov.: 6 AF XY: 0.00000802 AC XY: 2AN XY: 249312
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000225 AC: 2AN: 89044Hom.: 0 Cov.: 12 AF XY: 0.0000485 AC XY: 2AN XY: 41252
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.197C>T (p.A66V) alteration is located in exon 3 (coding exon 2) of the CLEC18A gene. This alteration results from a C to T substitution at nucleotide position 197, causing the alanine (A) at amino acid position 66 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