1-27666428-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002038.4(IFI6):c.346G>A(p.Gly116Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002038.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IFI6 | NM_002038.4 | c.346G>A | p.Gly116Ser | missense_variant | Exon 5 of 5 | ENST00000361157.11 | NP_002029.3 | |
IFI6 | NM_022873.3 | c.370G>A | p.Gly124Ser | missense_variant | Exon 5 of 5 | NP_075011.1 | ||
IFI6 | NM_022872.3 | c.358G>A | p.Gly120Ser | missense_variant | Exon 5 of 5 | NP_075010.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.370G>A (p.G124S) alteration is located in exon 5 (coding exon 4) of the IFI6 gene. This alteration results from a G to A substitution at nucleotide position 370, causing the glycine (G) at amino acid position 124 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.