19-50725433-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002975.3(CLEC11A):c.938G>A(p.Arg313Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000823 in 1,457,736 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002975.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000167 AC: 4AN: 239690Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131258
GnomAD4 exome AF: 0.00000823 AC: 12AN: 1457736Hom.: 0 Cov.: 54 AF XY: 0.00000966 AC XY: 7AN XY: 724858
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.938G>A (p.R313Q) alteration is located in exon 4 (coding exon 4) of the CLEC11A gene. This alteration results from a G to A substitution at nucleotide position 938, causing the arginine (R) at amino acid position 313 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