rs540459343
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001244753.2(FCGR3B):c.649C>T(p.Leu217Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,457,202 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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. L217V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001244753.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCGR3B | ENST00000650385.1 | c.649C>T | p.Leu217Phe | missense_variant | Exon 5 of 5 | NM_001244753.2 | ENSP00000497461.1 | |||
ENSG00000289768 | ENST00000699402.1 | c.40+6487C>T | intron_variant | Intron 1 of 3 | ENSP00000514363.1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250258Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135272
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1457202Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 724936
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at