chr11-613297-T-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001572.5(IRF7):c.1146A>C(p.Gly382=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.271 in 1,607,992 control chromosomes in the GnomAD database, including 64,358 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. G382G) has been classified as Likely benign.
Frequency
Consequence
NM_001572.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IRF7 | NM_001572.5 | c.1146A>C | p.Gly382= | synonymous_variant | 9/11 | ENST00000525445.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IRF7 | ENST00000525445.6 | c.1146A>C | p.Gly382= | synonymous_variant | 9/11 | 5 | NM_001572.5 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.326 AC: 49340AN: 151520Hom.: 9371 Cov.: 31
GnomAD3 exomes AF: 0.252 AC: 60036AN: 237930Hom.: 8939 AF XY: 0.243 AC XY: 31792AN XY: 130626
GnomAD4 exome AF: 0.265 AC: 386252AN: 1456358Hom.: 54971 Cov.: 40 AF XY: 0.261 AC XY: 188798AN XY: 724230
GnomAD4 genome ? AF: 0.326 AC: 49391AN: 151634Hom.: 9387 Cov.: 31 AF XY: 0.315 AC XY: 23339AN XY: 74062
ClinVar
Submissions by phenotype
Immunodeficiency 39 Benign:2
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 14, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan | Jan 24, 2024 | This variant is classified as Benign based on local population frequency. This variant was detected in 59% of patients studied by a panel of primary immunodeficiencies. Number of patients: 56. Only high quality variants are reported. - |
not provided Other:1
not provided, no classification provided | phenotyping only | GenomeConnect, ClinGen | - | Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at