rs5017567
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_001394477.1(FCGR2B):āc.248A>Cā(p.Gln83Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000144 in 152,260 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001394477.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FCGR2B | NM_001394477.1 | c.248A>C | p.Gln83Pro | missense_variant | 3/8 | ENST00000358671.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FCGR2B | ENST00000358671.10 | c.248A>C | p.Gln83Pro | missense_variant | 3/8 | 1 | NM_001394477.1 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000145 AC: 22AN: 152142Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251386Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135858
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000739 AC: 108AN: 1461650Hom.: 0 Cov.: 31 AF XY: 0.0000880 AC XY: 64AN XY: 727082
GnomAD4 genome ? AF: 0.000144 AC: 22AN: 152260Hom.: 0 Cov.: 30 AF XY: 0.000188 AC XY: 14AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at