NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys) AND Aicardi-Goutieres syndrome 7

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 11, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001003367.1

Allele description [Variation Report for NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys)]

NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys)

Gene:

IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.2

Genomic location:

Preferred name:

NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys)

HGVS:

NC_000002.12:g.162272281A>T
NG_011495.1:g.51249T>A
NM_022168.4:c.2561T>AMANE SELECT
NP_071451.2:p.Met854Lys
LRG_1235t1:c.2561T>A
LRG_1235:g.51249T>A
LRG_1235p1:p.Met854Lys
NC_000002.11:g.163128791A>T
NM_022168.3:c.2561T>A

Protein change:

M854K

Links:

dbSNP: rs138373022

NCBI 1000 Genomes Browser:

rs138373022

Molecular consequence:

NM_022168.4:c.2561T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Aicardi-Goutieres syndrome 7 (AGS7)
Identifiers:: MONDO: MONDO:0014367; MedGen: C3888244; Orphanet: 51; OMIM: 615846

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001161480	Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine	no assertion criteria provided	Pathogenic (Jun 11, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001161480

Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine

no assertion criteria provided

Pathogenic
(Jun 11, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, et al.

Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14.

PubMed [citation]

PMID:: 31898846
PMCID:: PMC7457149

Details of each submission

From Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, SCV001161480.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine