rs396716
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000443193.6(FCGR3A):āc.472T>Cā(p.Tyr158His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000632 in 1,613,860 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 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
ENST00000443193.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FCGR3A | NM_000569.8 | c.472T>C | p.Tyr158His | missense_variant | 4/5 | ENST00000443193.6 | NP_000560.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCGR3A | ENST00000443193.6 | c.472T>C | p.Tyr158His | missense_variant | 4/5 | 1 | NM_000569.8 | ENSP00000392047 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152130Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251352Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135854
GnomAD4 exome AF: 0.0000623 AC: 91AN: 1461612Hom.: 2 Cov.: 34 AF XY: 0.0000770 AC XY: 56AN XY: 727104
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152248Hom.: 0 Cov.: 31 AF XY: 0.0000940 AC XY: 7AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at