chr19-50725130-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002975.3(CLEC11A):c.635C>T(p.Ala212Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000194 in 1,545,626 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLEC11A | ENST00000250340.9 | c.635C>T | p.Ala212Val | missense_variant | Exon 4 of 4 | 1 | NM_002975.3 | ENSP00000250340.3 | ||
CLEC11A | ENST00000599973.1 | c.684C>T | p.Gly228Gly | synonymous_variant | Exon 4 of 4 | 1 | ENSP00000471075.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 33
GnomAD4 exome AF: 7.18e-7 AC: 1AN: 1393412Hom.: 0 Cov.: 48 AF XY: 0.00000145 AC XY: 1AN XY: 687502
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.635C>T (p.A212V) alteration is located in exon 4 (coding exon 4) of the CLEC11A gene. This alteration results from a C to T substitution at nucleotide position 635, causing the alanine (A) at amino acid position 212 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