1-161629891-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP6_Moderate
The NM_001244753.2(FCGR3B):c.206G>A(p.Ser69Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001244753.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCGR3B | ENST00000650385.1 | c.206G>A | p.Ser69Asn | missense_variant | Exon 3 of 5 | NM_001244753.2 | ENSP00000497461.1 | |||
ENSG00000289768 | ENST00000699402.1 | c.40+1164G>A | intron_variant | Intron 1 of 3 | ENSP00000514363.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 86364Hom.: 0 Cov.: 11 FAILED QC
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247508Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134000
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000120 AC: 17AN: 1413416Hom.: 0 Cov.: 35 AF XY: 0.0000128 AC XY: 9AN XY: 702276
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000232 AC: 2AN: 86364Hom.: 0 Cov.: 11 AF XY: 0.00 AC XY: 0AN XY: 40622
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at