17-43013614-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001330230.2(IFI35):c.514C>T(p.Arg172Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000415 in 1,613,932 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R172Q) has been classified as Benign.
Frequency
Consequence
NM_001330230.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IFI35 | NM_001330230.2 | c.514C>T | p.Arg172Trp | missense_variant | Exon 5 of 7 | ENST00000415816.7 | NP_001317159.1 | |
IFI35 | NM_005533.5 | c.520C>T | p.Arg174Trp | missense_variant | Exon 5 of 7 | NP_005524.2 | ||
IFI35 | XM_017024584.2 | c.460C>T | p.Arg154Trp | missense_variant | Exon 5 of 7 | XP_016880073.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152084Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000107 AC: 27AN: 251292Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135804
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461848Hom.: 0 Cov.: 39 AF XY: 0.0000344 AC XY: 25AN XY: 727220
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152084Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 12AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.520C>T (p.R174W) alteration is located in exon 5 (coding exon 5) of the IFI35 gene. This alteration results from a C to T substitution at nucleotide position 520, causing the arginine (R) at amino acid position 174 to be replaced by a tryptophan (W). 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