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NM_000416.3(IFNGR1):c.200+1G>A AND Immunodeficiency 27A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 1998
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:
RCV000019542.32

Allele description [Variation Report for NM_000416.3(IFNGR1):c.200+1G>A]

NM_000416.3(IFNGR1):c.200+1G>A

Gene:
IFNGR1:interferon gamma receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000416.3(IFNGR1):c.200+1G>A
HGVS:
  • NC_000006.12:g.137206962C>T
  • NG_007394.1:g.17469G>A
  • NM_000416.3:c.200+1G>AMANE SELECT
  • NM_001363526.1:c.170+1G>A
  • NM_001363527.1:c.77+1G>A
  • LRG_66t1:c.200+1G>A
  • LRG_66:g.17469G>A
  • NC_000006.11:g.137528099C>T
  • NM_000416.2:c.200+1G>A
Nucleotide change:
IVS3DS, G-A, +1
Links:
OMIM: 107470.0005; dbSNP: rs587776855
NCBI 1000 Genomes Browser:
rs587776855
Molecular consequence:
  • NM_000416.3:c.200+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363526.1:c.170+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363527.1:c.77+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Immunodeficiency 27A (IMD27A)
Synonyms:
IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0008856; MedGen: C4011949; Orphanet: 319569; Orphanet: 99898; OMIM: 209950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039839OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.

Altare F, Jouanguy E, Lamhamedi-Cherradi S, Fondanéche MC, Fizame C, Ribiérre F, Merlin G, Dembic Z, Schreiber R, Lisowska-Grospierre B, Fischer A, Seboun E, Casanova JL.

Am J Hum Genet. 1998 Mar;62(3):723-6. No abstract available.

PubMed [citation]
PMID:
9497247
PMCID:
PMC1376945

Details of each submission

From OMIM, SCV000039839.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the splice site mutation (200+1G-A) in the IFNGR1 gene that was found in compound heterozygous state in a patient with immunodeficiency-27A (IMD27A; 209950) by Altare et al. (1998), see 107470.0004.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023