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NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr) AND Immunodeficiency 27A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2000
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:
RCV000019545.31

Allele description [Variation Report for NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr)]

NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr)

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.230G>A (p.Cys77Tyr)
HGVS:
  • NC_000006.12:g.137206279C>T
  • NG_007394.1:g.18152G>A
  • NM_000416.3:c.230G>AMANE SELECT
  • NM_001363526.1:c.200G>A
  • NM_001363527.1:c.107G>A
  • NP_000407.1:p.Cys77Tyr
  • NP_001350455.1:p.Cys67Tyr
  • NP_001350456.1:p.Cys36Tyr
  • LRG_66:g.18152G>A
  • NC_000006.11:g.137527416C>T
  • P15260:p.Cys77Tyr
Protein change:
C36Y; CYS77TYR
Links:
UniProtKB: P15260#VAR_017577; OMIM: 107470.0008; dbSNP: rs104893974
NCBI 1000 Genomes Browser:
rs104893974
Molecular consequence:
  • NM_000416.3:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363526.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363527.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000039842OMIM
no assertion criteria provided
Pathogenic
(May 1, 2000) 		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

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.

Jouanguy E, Dupuis S, Pallier A, Döffinger R, Fondanèche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova JL.

J Clin Invest. 2000 May;105(10):1429-36.

PubMed [citation]
PMID:
10811850
PMCID:
PMC315467

Details of each submission

From OMIM, SCV000039842.5

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

Description

Jouanguy et al. (2000) reported 2 sibs, a boy and a girl, born to consanguineous Turkish parents who had atypical mycobacterial infections (IMD27A; 209950). The patients were homozygous for a G-to-A transition at nucleotide 230 near the 5-prime end of exon 3 of the IFNGR1 gene, resulting in a cys77-to-tyr (C77Y) substitution. The girl had recurrent BCG infection that was poorly responsive to antibiotic treatment. At age 10 years, she was diagnosed with M. fortuitum infection. One year later, she remained ill despite antibiotic treatment. The boy had recurrent BCG infection until 8 years of age, when disseminated M. fortuitum was also diagnosed. At age 9 years he was in partial remission with multiple antibiotic treatments. Two other sibs died at age 3 years of acute leukemia and typhoid fever, while 3 others were healthy, BCG-vaccinated adults. The patients' cells expressed IFNGR1 but were unresponsive to IFNG (147570).

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

Last Updated: Apr 23, 2022