17-43013559-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001330230.2(IFI35):c.459C>G(p.Asp153Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,614,004 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330230.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IFI35 | NM_001330230.2 | c.459C>G | p.Asp153Glu | missense_variant | Exon 5 of 7 | ENST00000415816.7 | NP_001317159.1 | |
IFI35 | NM_005533.5 | c.465C>G | p.Asp155Glu | missense_variant | Exon 5 of 7 | NP_005524.2 | ||
IFI35 | XM_017024584.2 | c.405C>G | p.Asp135Glu | missense_variant | Exon 5 of 7 | XP_016880073.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251188Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135750
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461866Hom.: 0 Cov.: 39 AF XY: 0.0000303 AC XY: 22AN XY: 727234
GnomAD4 genome AF: 0.000151 AC: 23AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.465C>G (p.D155E) alteration is located in exon 5 (coding exon 5) of the IFI35 gene. This alteration results from a C to G substitution at nucleotide position 465, causing the aspartic acid (D) at amino acid position 155 to be replaced by a glutamic acid (E). 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