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NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 24, 2019)
Last evaluated:
Dec 13, 2018
Accession:
VCV000137626.2
Variation ID:
137626
Description:
single nucleotide variant
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NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)

Allele ID
141329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.2
Genomic location
2: 162282494 (GRCh38) GRCh38 UCSC
2: 163139004 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.163139004T>A
NC_000002.12:g.162282494T>A
NM_022168.4:c.1178A>T NP_071451.2:p.Asp393Val missense
... more HGVS
Protein change
D393V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA163194
UniProtKB: Q9BYX4#VAR_071377
OMIM: 606951.0006
dbSNP: rs587777449
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Dec 13, 2018 RCV000125475.5

Clinical features observed in individuals with this variant

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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
Likely pathogenic
(Dec 13, 2018)
criteria provided, single submitter
Method: research
Aicardi-Goutieres syndrome 7
Allele origin: unknown
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: HudsonAlpha-AGHI-WGS
Accession: SCV000993597.1
Submitted: (May 24, 2019)
Evidence details
Pathogenic
(May 01, 2014)
no assertion criteria provided
Method: literature only
AICARDI-GOUTIERES SYNDROME 7
Allele origin: germline
OMIM
Accession: SCV000168927.3
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