1-161629801-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001244753.2(FCGR3B):c.296C>T(p.Pro99Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCGR3B | ENST00000650385.1 | c.296C>T | p.Pro99Leu | missense_variant | Exon 3 of 5 | NM_001244753.2 | ENSP00000497461.1 | |||
ENSG00000289768 | ENST00000699402.1 | c.40+1254C>T | intron_variant | Intron 1 of 3 | ENSP00000514363.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 76060Hom.: 1 Cov.: 10 FAILED QC
GnomAD3 exomes AF: 0.0000133 AC: 3AN: 225430Hom.: 1 AF XY: 0.0000244 AC XY: 3AN XY: 122886
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000893 AC: 12AN: 1343346Hom.: 2 Cov.: 30 AF XY: 0.0000120 AC XY: 8AN XY: 667082
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000263 AC: 2AN: 76060Hom.: 1 Cov.: 10 AF XY: 0.00 AC XY: 0AN XY: 35632
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.296C>T (p.P99L) 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 296, causing the proline (P) at amino acid position 99 to be replaced by a leucine (L). 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