chr1-161677540-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394477.1(FCGR2B):c.920A>G(p.Gln307Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,460,076 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394477.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FCGR2B | NM_001394477.1 | c.920A>G | p.Gln307Arg | missense_variant | 8/8 | ENST00000358671.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FCGR2B | ENST00000358671.10 | c.920A>G | p.Gln307Arg | missense_variant | 8/8 | 1 | NM_001394477.1 | P4 | |
FCGR2B | ENST00000367961.8 | c.899A>G | p.Gln300Arg | missense_variant | 7/7 | 1 | A2 | ||
FCGR2B | ENST00000236937.13 | c.863A>G | p.Gln288Arg | missense_variant | 7/7 | 1 | A2 | ||
FCGR2B | ENST00000480308.5 | n.4167A>G | non_coding_transcript_exon_variant | 6/6 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250800Hom.: 1 AF XY: 0.00 AC XY: 0AN XY: 135634
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460076Hom.: 1 Cov.: 29 AF XY: 0.00000413 AC XY: 3AN XY: 726542
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 01, 2023 | The c.920A>G (p.Q307R) alteration is located in exon 8 (coding exon 8) of the FCGR2B gene. This alteration results from a A to G substitution at nucleotide position 920, causing the glutamine (Q) at amino acid position 307 to be replaced by an arginine (R). 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