rs731170
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001278426.4(LILRB4):c.668G>A(p.Gly223Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.323 in 1,599,766 control chromosomes in the GnomAD database, including 86,664 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/6 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001278426.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LILRB4 | NM_001278426.4 | c.668G>A | p.Gly223Asp | missense_variant | 5/12 | ENST00000695418.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LILRB4 | ENST00000695418.1 | c.668G>A | p.Gly223Asp | missense_variant | 5/12 | NM_001278426.4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.386 AC: 58653AN: 151906Hom.: 12422 Cov.: 32
GnomAD4 exome AF: 0.316 AC: 457379AN: 1447742Hom.: 74219 Cov.: 33 AF XY: 0.313 AC XY: 225178AN XY: 719300
GnomAD4 genome ? AF: 0.386 AC: 58736AN: 152024Hom.: 12445 Cov.: 32 AF XY: 0.384 AC XY: 28499AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at