chr5-132484229-C-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002198.3(IRF1):c.853+133G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.467 in 1,411,578 control chromosomes in the GnomAD database, including 158,672 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002198.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IRF1 | ENST00000245414.9 | c.853+133G>T | intron_variant | Intron 9 of 9 | 1 | NM_002198.3 | ENSP00000245414.4 | |||
ENSG00000283782 | ENST00000640655.2 | c.-637-1963C>A | intron_variant | Intron 1 of 25 | 5 | ENSP00000491596.2 |
Frequencies
GnomAD3 genomes AF: 0.518 AC: 78525AN: 151730Hom.: 20968 Cov.: 31
GnomAD4 exome AF: 0.461 AC: 580318AN: 1259730Hom.: 137670 Cov.: 18 AF XY: 0.464 AC XY: 290259AN XY: 625902
GnomAD4 genome AF: 0.518 AC: 78617AN: 151848Hom.: 21002 Cov.: 31 AF XY: 0.525 AC XY: 38950AN XY: 74174
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 24% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at