NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser) AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 15, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004584425.1

Allele description [Variation Report for NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)]

NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)

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.527A>G (p.Asn176Ser)

HGVS:

NC_000002.12:g.162310860T>C
NG_011495.1:g.12670A>G
NM_022168.4:c.527A>GMANE SELECT
NP_071451.2:p.Asn176Ser
LRG_1235t1:c.527A>G
LRG_1235:g.12670A>G
LRG_1235p1:p.Asn176Ser
NC_000002.11:g.163167370T>C
NM_022168.3:c.527A>G

Protein change:

N176S

Links:

dbSNP: rs374205118

NCBI 1000 Genomes Browser:

rs374205118

Molecular consequence:

NM_022168.4:c.527A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002578056	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 15, 2021)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25620204, 28475458, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002578056

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 15, 2021)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A, Hennekam RC.

Am J Hum Genet. 2015 Feb 5;96(2):275-82. doi: 10.1016/j.ajhg.2014.12.014. Epub 2015 Jan 22.

PubMed [citation]

PMID:: 25620204
PMCID:: PMC4320263

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Buers I, Rice GI, Crow YJ, Rutsch F.

J Interferon Cytokine Res. 2017 May;37(5):214-219. doi: 10.1089/jir.2017.0004. Review.

PubMed [citation]

PMID:: 28475458
PMCID:: PMC5439407

See all PubMed Citations (3)

Details of each submission

From Institute of Human Genetics, University Hospital Muenster, SCV002578056.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

ACMG categories: PM1,PM2

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

Last Updated: Oct 8, 2024

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