rs76107421
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001572.5(IRF7):c.660G>A(p.Leu220=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000713 in 1,612,802 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. L220L) 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 -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IRF7 | NM_001572.5 | c.660G>A | p.Leu220= | synonymous_variant | 6/11 | ENST00000525445.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IRF7 | ENST00000525445.6 | c.660G>A | p.Leu220= | synonymous_variant | 6/11 | 5 | NM_001572.5 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00376 AC: 573AN: 152196Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000866 AC: 215AN: 248158Hom.: 1 AF XY: 0.000601 AC XY: 81AN XY: 134682
GnomAD4 exome AF: 0.000394 AC: 575AN: 1460488Hom.: 3 Cov.: 35 AF XY: 0.000344 AC XY: 250AN XY: 726496
GnomAD4 genome ? AF: 0.00378 AC: 575AN: 152314Hom.: 3 Cov.: 32 AF XY: 0.00372 AC XY: 277AN XY: 74478
ClinVar
Submissions by phenotype
Immunodeficiency 39 Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Dec 23, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at