Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 21, 2020)
Last evaluated:
May 7, 2019
Accession:
VCV000137621.2
Variation ID:
137621
Description:
single nucleotide variant
Help

NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)

Allele ID
141324
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.2
Genomic location
2: 162276832 (GRCh38) GRCh38 UCSC
2: 163133342 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.163133342C>T
NC_000002.12:g.162276832C>T
NM_022168.4:c.2159G>A NP_071451.2:p.Arg720Gln missense
... more HGVS
Protein change
R720Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA163189
UniProtKB: Q9BYX4#VAR_071380
OMIM: 606951.0001
dbSNP: rs587777445
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter May 7, 2019 RCV000125470.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IFIH1 - - GRCh38
GRCh37
189 208

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 07, 2019)
criteria provided, single submitter
Method: clinical testing
Aicardi-Goutieres syndrome 7
(Autosomal dominant inheritance)
Allele origin: de novo
Institute of Human Genetics,Klinikum rechts der Isar
Accession: SCV001149807.1
Submitted: (Jan 21, 2020)
Evidence details
Pathogenic
(May 01, 2014)
no assertion criteria provided
Method: literature only
AICARDI-GOUTIERES SYNDROME 7
Allele origin: germline
OMIM
Accession: SCV000168922.2
Submitted: (Jun 17, 2014)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Rice GI Nature genetics 2014 PMID: 24686847

Record last updated Feb 28, 2020