chr12-6541518-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001193457.2(IFFO1):c.1604G>A(p.Gly535Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,528 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IFFO1 | NM_001193457.2 | c.1604G>A | p.Gly535Glu | missense_variant | Exon 9 of 10 | ENST00000619571.5 | NP_001180386.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IFFO1 | ENST00000619571.5 | c.1604G>A | p.Gly535Glu | missense_variant | Exon 9 of 10 | 2 | NM_001193457.2 | ENSP00000482285.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461528Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727084
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1604G>A (p.G535E) alteration is located in exon 9 (coding exon 9) of the IFFO1 gene. This alteration results from a G to A substitution at nucleotide position 1604, causing the glycine (G) at amino acid position 535 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
Publications
No publications associated with this variant yet.