16-11003090-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015226.3(CLEC16A):c.1088G>A(p.Arg363Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000822 in 1,459,822 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015226.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLEC16A | ENST00000409790.6 | c.1088G>A | p.Arg363Gln | missense_variant | Exon 11 of 24 | 5 | NM_015226.3 | ENSP00000387122.1 | ||
CLEC16A | ENST00000409552.4 | c.1082G>A | p.Arg361Gln | missense_variant | Exon 10 of 21 | 1 | ENSP00000386495.3 | |||
CLEC16A | ENST00000703130.1 | c.1082G>A | p.Arg361Gln | missense_variant | Exon 10 of 23 | ENSP00000515187.1 | ||||
CLEC16A | ENST00000494853.1 | n.563G>A | non_coding_transcript_exon_variant | Exon 6 of 8 | 3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 246868Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 133996
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459822Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726128
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1088G>A (p.R363Q) alteration is located in exon 11 (coding exon 11) of the CLEC16A gene. This alteration results from a G to A substitution at nucleotide position 1088, causing the arginine (R) at amino acid position 363 to be replaced by a glutamine (Q). 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