1-161626220-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001244753.2(FCGR3B):c.502G>A(p.Gly168Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000115 in 1,608,584 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001244753.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCGR3B | ENST00000650385.1 | c.502G>A | p.Gly168Ser | missense_variant | Exon 4 of 5 | NM_001244753.2 | ENSP00000497461.1 | |||
ENSG00000289768 | ENST00000699402.1 | c.40+4835G>A | intron_variant | Intron 1 of 3 | ENSP00000514363.1 |
Frequencies
GnomAD3 genomes AF: 0.000580 AC: 87AN: 150128Hom.: 6 Cov.: 28
GnomAD3 exomes AF: 0.000176 AC: 44AN: 250412Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135334
GnomAD4 exome AF: 0.0000665 AC: 97AN: 1458340Hom.: 4 Cov.: 33 AF XY: 0.0000607 AC XY: 44AN XY: 725414
GnomAD4 genome AF: 0.000586 AC: 88AN: 150244Hom.: 6 Cov.: 28 AF XY: 0.000695 AC XY: 51AN XY: 73402
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.502G>A (p.G168S) alteration is located in exon 5 (coding exon 4) of the FCGR3B gene. This alteration results from a G to A substitution at nucleotide position 502, causing the glycine (G) at amino acid position 168 to be replaced by a serine (S). 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