12-6548806-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001193457.2(IFFO1):c.1124G>A(p.Arg375Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000564 in 1,613,266 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 (★).
Frequency
Consequence
NM_001193457.2 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 |
---|---|---|---|---|---|---|---|---|
IFFO1 | NM_001193457.2 | c.1124G>A | p.Arg375Gln | missense_variant | Exon 6 of 10 | ENST00000619571.5 | NP_001180386.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IFFO1 | ENST00000619571.5 | c.1124G>A | p.Arg375Gln | missense_variant | Exon 6 of 10 | 2 | NM_001193457.2 | ENSP00000482285.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000493 AC: 12AN: 243204Hom.: 0 AF XY: 0.0000757 AC XY: 10AN XY: 132090
GnomAD4 exome AF: 0.0000582 AC: 85AN: 1461120Hom.: 0 Cov.: 33 AF XY: 0.0000633 AC XY: 46AN XY: 726806
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1124G>A (p.R375Q) alteration is located in exon 6 (coding exon 6) of the IFFO1 gene. This alteration results from a G to A substitution at nucleotide position 1124, causing the arginine (R) at amino acid position 375 to be replaced by a glutamine (Q). 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