1-161624568-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001244753.2(FCGR3B):āc.649C>Gā(p.Leu217Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.649C>G | p.Leu217Val | missense_variant | Exon 5 of 5 | NM_001244753.2 | ENSP00000497461.1 | |||
ENSG00000289768 | ENST00000699402.1 | c.40+6487C>G | intron_variant | Intron 1 of 3 | ENSP00000514363.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 149332Hom.: 0 Cov.: 30 FAILED QC
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250258Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135272
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000343 AC: 5AN: 1457202Hom.: 0 Cov.: 32 AF XY: 0.00000552 AC XY: 4AN XY: 724936
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 149450Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 72948
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.649C>G (p.L217V) alteration is located in exon 6 (coding exon 5) of the FCGR3B gene. This alteration results from a C to G substitution at nucleotide position 649, causing the leucine (L) at amino acid position 217 to be replaced by a valine (V). 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