rs377340315
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022489.4(INF2):c.2489G>A(p.Gly830Glu) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000274 in 1,459,886 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. 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. G830V) has been classified as Likely benign.
Frequency
Consequence
NM_022489.4 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INF2 | NM_022489.4 | c.2489G>A | p.Gly830Glu | missense_variant, splice_region_variant | 16/23 | ENST00000392634.9 | |
INF2 | NM_001031714.4 | c.2489G>A | p.Gly830Glu | missense_variant, splice_region_variant | 16/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INF2 | ENST00000392634.9 | c.2489G>A | p.Gly830Glu | missense_variant, splice_region_variant | 16/23 | 5 | NM_022489.4 | P4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245590Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134042
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459886Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726214
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at