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NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 1, 2018
Accession:
VCV000137624.2
Variation ID:
137624
Description:
single nucleotide variant
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NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)

Allele ID
141327
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.2
Genomic location
2: 162273914 (GRCh38) GRCh38 UCSC
2: 163130424 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.163130424G>A
NC_000002.12:g.162273914G>A
NM_022168.4:c.2335C>T NP_071451.2:p.Arg779Cys missense
... more HGVS
Protein change
R779C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA163192
UniProtKB: Q9BYX4#VAR_071381
OMIM: 606951.0004
dbSNP: rs587777448
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 1, 2018 RCV000255113.2
Pathogenic 1 no assertion criteria provided May 1, 2014 RCV000125473.4
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322381.8
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R779C variant in the IFIH1 gene has been reported previously in two unrelated individuals with Aicardi-Goutières syndrome, one which the R779C variant was shown ... (more)
Pathogenic
(May 01, 2014)
no assertion criteria provided
Method: literature only
AICARDI-GOUTIERES SYNDROME 7
Allele origin: germline
OMIM
Accession: SCV000168925.3
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 Oct 27, 2019