11-612650-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001572.5(IRF7):c.1507G>A(p.Ala503Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,612,610 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. A503V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001572.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IRF7 | NM_001572.5 | c.1507G>A | p.Ala503Thr | missense_variant | Exon 11 of 11 | ENST00000525445.6 | NP_001563.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152116Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250408Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135560
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460376Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726540
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1546G>A (p.A516T) alteration is located in exon 9 (coding exon 9) of the IRF7 gene. This alteration results from a G to A substitution at nucleotide position 1546, causing the alanine (A) at amino acid position 516 to be replaced by a threonine (T). 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