rs11574576
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001278426.4(LILRB4):āc.1003A>Cā(p.Asn335His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000424 in 1,613,976 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N335D) has been classified as Likely benign.
Frequency
Consequence
NM_001278426.4 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 |
---|---|---|---|---|---|---|---|
LILRB4 | NM_001278426.4 | c.1003A>C | p.Asn335His | missense_variant | 10/12 | ENST00000695418.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LILRB4 | ENST00000695418.1 | c.1003A>C | p.Asn335His | missense_variant | 10/12 | NM_001278426.4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00130 AC: 197AN: 152060Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000477 AC: 120AN: 251370Hom.: 1 AF XY: 0.000368 AC XY: 50AN XY: 135838
GnomAD4 exome AF: 0.000333 AC: 487AN: 1461798Hom.: 1 Cov.: 42 AF XY: 0.000322 AC XY: 234AN XY: 727212
GnomAD4 genome ? AF: 0.00129 AC: 197AN: 152178Hom.: 1 Cov.: 33 AF XY: 0.00129 AC XY: 96AN XY: 74392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at