chr12-8138154-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_016184.4(CLEC4A):c.581G>A(p.Arg194His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000868 in 1,613,742 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R194C) has been classified as Uncertain significance.
Frequency
Consequence
NM_016184.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLEC4A | NM_016184.4 | c.581G>A | p.Arg194His | missense_variant | 6/6 | ENST00000229332.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLEC4A | ENST00000229332.12 | c.581G>A | p.Arg194His | missense_variant | 6/6 | 1 | NM_016184.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152084Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 250946Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135636
GnomAD4 exome AF: 0.0000896 AC: 131AN: 1461658Hom.: 1 Cov.: 30 AF XY: 0.0000935 AC XY: 68AN XY: 727136
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152084Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 4AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at