1-161629901-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001244753.2(FCGR3B):c.196C>T(p.Leu66Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict 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 -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCGR3B | ENST00000650385.1 | c.196C>T | p.Leu66Phe | missense_variant | Exon 3 of 5 | NM_001244753.2 | ENSP00000497461.1 | |||
ENSG00000289768 | ENST00000699402.1 | c.40+1154C>T | intron_variant | Intron 1 of 3 | ENSP00000514363.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 86614Hom.: 0 Cov.: 11 FAILED QC
GnomAD3 exomes AF: 0.0000444 AC: 11AN: 247600Hom.: 1 AF XY: 0.0000373 AC XY: 5AN XY: 134070
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000850 AC: 12AN: 1411438Hom.: 2 Cov.: 34 AF XY: 0.00000570 AC XY: 4AN XY: 701576
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000231 AC: 2AN: 86650Hom.: 0 Cov.: 11 AF XY: 0.0000245 AC XY: 1AN XY: 40850
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.196C>T (p.L66F) alteration is located in exon 4 (coding exon 3) of the FCGR3B gene. This alteration results from a C to T substitution at nucleotide position 196, causing the leucine (L) at amino acid position 66 to be replaced by a phenylalanine (F). 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