rs17433780
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018284.3(GBP3):āc.1471T>Cā(p.Cys491Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.307 in 1,612,222 control chromosomes in the GnomAD database, including 77,637 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C491Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_018284.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GBP3 | NM_018284.3 | c.1471T>C | p.Cys491Arg | missense_variant | 10/11 | ENST00000370481.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GBP3 | ENST00000370481.9 | c.1471T>C | p.Cys491Arg | missense_variant | 10/11 | 1 | NM_018284.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.290 AC: 43999AN: 151870Hom.: 6479 Cov.: 31
GnomAD3 exomes AF: 0.281 AC: 70516AN: 250506Hom.: 10356 AF XY: 0.285 AC XY: 38603AN XY: 135364
GnomAD4 exome AF: 0.309 AC: 451567AN: 1460234Hom.: 71147 Cov.: 34 AF XY: 0.308 AC XY: 223455AN XY: 726438
GnomAD4 genome ? AF: 0.290 AC: 44039AN: 151988Hom.: 6490 Cov.: 31 AF XY: 0.285 AC XY: 21187AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at