chr1-161629807-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001244753.2(FCGR3B):c.290G>A(p.Ser97Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000121 in 1,343,142 control chromosomes in the GnomAD database, including 15 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 Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCGR3B | ENST00000650385.1 | c.290G>A | p.Ser97Asn | missense_variant | Exon 3 of 5 | NM_001244753.2 | ENSP00000497461.1 | |||
ENSG00000289768 | ENST00000699402.1 | c.40+1248G>A | intron_variant | Intron 1 of 3 | ENSP00000514363.1 |
Frequencies
GnomAD3 genomes AF: 0.0000780 AC: 6AN: 76942Hom.: 1 Cov.: 10
GnomAD3 exomes AF: 0.0000798 AC: 18AN: 225704Hom.: 4 AF XY: 0.000114 AC XY: 14AN XY: 122990
GnomAD4 exome AF: 0.000121 AC: 162AN: 1343142Hom.: 15 Cov.: 30 AF XY: 0.000133 AC XY: 89AN XY: 667048
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000779 AC: 6AN: 76990Hom.: 1 Cov.: 10 AF XY: 0.000110 AC XY: 4AN XY: 36216
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.290G>A (p.S97N) alteration is located in exon 4 (coding exon 3) of the FCGR3B gene. This alteration results from a G to A substitution at nucleotide position 290, causing the serine (S) at amino acid position 97 to be replaced by an asparagine (N). 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