16-74412787-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001385193.1(CLEC18B):c.770G>A(p.Gly257Asp) variant causes a missense change. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001385193.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLEC18B | NM_001385193.1 | c.770G>A | p.Gly257Asp | missense_variant | Exon 6 of 12 | ENST00000682950.1 | NP_001372122.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLEC18B | ENST00000682950.1 | c.770G>A | p.Gly257Asp | missense_variant | Exon 6 of 12 | NM_001385193.1 | ENSP00000507367.1 | |||
CLEC18B | ENST00000339953.9 | c.770G>A | p.Gly257Asp | missense_variant | Exon 6 of 13 | 1 | ENSP00000341051.5 | |||
CLEC18B | ENST00000425714.2 | n.730G>A | non_coding_transcript_exon_variant | Exon 5 of 7 | 2 | |||||
CLEC18B | ENST00000564842.1 | n.13G>A | non_coding_transcript_exon_variant | Exon 1 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152218Hom.: 0 Cov.: 41
GnomAD3 exomes AF: 0.000173 AC: 43AN: 248170Hom.: 0 AF XY: 0.000171 AC XY: 23AN XY: 134634
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000281 AC: 41AN: 1459610Hom.: 0 Cov.: 36 AF XY: 0.0000289 AC XY: 21AN XY: 726096
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000460 AC: 7AN: 152218Hom.: 0 Cov.: 41 AF XY: 0.0000672 AC XY: 5AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.770G>A (p.G257D) alteration is located in exon 6 (coding exon 6) of the CLEC18B gene. This alteration results from a G to A substitution at nucleotide position 770, causing the glycine (G) at amino acid position 257 to be replaced by an aspartic acid (D). 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