16-69952103-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_001370523.4(CLEC18A):c.193C>T(p.Pro65Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign 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 Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLEC18A | NM_001370523.4 | c.193C>T | p.Pro65Ser | missense_variant | Exon 2 of 12 | ENST00000288040.11 | NP_001357452.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000900 AC: 8AN: 88900Hom.: 0 Cov.: 11
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000733 AC: 37AN: 505016Hom.: 0 Cov.: 6 AF XY: 0.0000965 AC XY: 25AN XY: 259050
GnomAD4 genome AF: 0.0000900 AC: 8AN: 88900Hom.: 0 Cov.: 11 AF XY: 0.0000486 AC XY: 2AN XY: 41182
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.193C>T (p.P65S) 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 193, causing the proline (P) at amino acid position 65 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