rs12118043

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000358671.10(FCGR2B):​c.818-294C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.146 in 461,422 control chromosomes in the GnomAD database, including 6,104 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.13 ( 1770 hom., cov: 31)
Exomes 𝑓: 0.15 ( 4334 hom. )

Consequence

FCGR2B
ENST00000358671.10 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.248
Variant links:
Genes affected
FCGR2B (HGNC:3618): (Fc gamma receptor IIb) The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.6).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.195 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
FCGR2BNM_001394477.1 linkuse as main transcriptc.818-294C>A intron_variant ENST00000358671.10 NP_001381406.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
FCGR2BENST00000358671.10 linkuse as main transcriptc.818-294C>A intron_variant 1 NM_001394477.1 ENSP00000351497 P4P31994-1
FCGR2BENST00000236937.13 linkuse as main transcriptc.761-294C>A intron_variant 1 ENSP00000236937 A2P31994-2
FCGR2BENST00000367961.8 linkuse as main transcriptc.797-294C>A intron_variant 1 ENSP00000356938 A2P31994-3
FCGR2BENST00000480308.5 linkuse as main transcriptn.3771C>A non_coding_transcript_exon_variant 5/61

Frequencies

GnomAD3 genomes
AF:
0.132
AC:
20087
AN:
152014
Hom.:
1770
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.0358
Gnomad AMI
AF:
0.134
Gnomad AMR
AF:
0.104
Gnomad ASJ
AF:
0.110
Gnomad EAS
AF:
0.0563
Gnomad SAS
AF:
0.0996
Gnomad FIN
AF:
0.188
Gnomad MID
AF:
0.0987
Gnomad NFE
AF:
0.197
Gnomad OTH
AF:
0.145
GnomAD4 exome
AF:
0.153
AC:
47459
AN:
309290
Hom.:
4334
Cov.:
0
AF XY:
0.149
AC XY:
24165
AN XY:
162064
show subpopulations
Gnomad4 AFR exome
AF:
0.0358
Gnomad4 AMR exome
AF:
0.0892
Gnomad4 ASJ exome
AF:
0.0917
Gnomad4 EAS exome
AF:
0.0441
Gnomad4 SAS exome
AF:
0.103
Gnomad4 FIN exome
AF:
0.177
Gnomad4 NFE exome
AF:
0.180
Gnomad4 OTH exome
AF:
0.152
GnomAD4 genome
AF:
0.132
AC:
20079
AN:
152132
Hom.:
1770
Cov.:
31
AF XY:
0.128
AC XY:
9505
AN XY:
74372
show subpopulations
Gnomad4 AFR
AF:
0.0357
Gnomad4 AMR
AF:
0.104
Gnomad4 ASJ
AF:
0.110
Gnomad4 EAS
AF:
0.0561
Gnomad4 SAS
AF:
0.100
Gnomad4 FIN
AF:
0.188
Gnomad4 NFE
AF:
0.197
Gnomad4 OTH
AF:
0.143
Alfa
AF:
0.174
Hom.:
3382
Bravo
AF:
0.124
Asia WGS
AF:
0.0830
AC:
288
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.60
CADD
Benign
9.2
DANN
Benign
0.88

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.030
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs12118043; hg19: chr1-161646824; API