rs773035311
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_198460.3(GBP6):āc.251C>Gā(p.Pro84Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,712 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P84L) has been classified as Uncertain significance.
Frequency
Consequence
NM_198460.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GBP6 | NM_198460.3 | c.251C>G | p.Pro84Arg | missense_variant | Exon 3 of 11 | ENST00000370456.5 | NP_940862.2 | |
GBP6 | XM_011540835.4 | c.251C>G | p.Pro84Arg | missense_variant | Exon 3 of 11 | XP_011539137.1 | ||
GBP6 | NM_001320257.2 | c.-73+5479C>G | intron_variant | Intron 1 of 8 | NP_001307186.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251270Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135782
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461712Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727144
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at