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NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr) AND Mycobacterium tuberculosis, susceptibility to

Germline classification:
risk factor (1 submission)
Last evaluated:
Dec 1, 1997
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:
RCV000144034.3

Allele description [Variation Report for NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)]

NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)

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.260T>C (p.Ile87Thr)
HGVS:
  • NC_000006.12:g.137206249A>G
  • NG_007394.1:g.18182T>C
  • NM_000416.3:c.260T>CMANE SELECT
  • NM_001363526.1:c.230T>C
  • NM_001363527.1:c.137T>C
  • NP_000407.1:p.Ile87Thr
  • NP_000407.1:p.Ile87Thr
  • NP_001350455.1:p.Ile77Thr
  • NP_001350456.1:p.Ile46Thr
  • LRG_66t1:c.260T>C
  • LRG_66:g.18182T>C
  • LRG_66p1:p.Ile87Thr
  • NC_000006.11:g.137527386A>G
  • NM_000416.2:c.260T>C
  • P15260:p.Ile87Thr
Protein change:
I46T; ILE87THR
Links:
UniProtKB: P15260#VAR_017578; OMIM: 107470.0003; dbSNP: rs104893973
NCBI 1000 Genomes Browser:
rs104893973
Molecular consequence:
  • NM_000416.3:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363526.1:c.230T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363527.1:c.137T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mycobacterium tuberculosis, susceptibility to
Identifiers:
MedGen: C1834752; OMIM: 607948

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188932OMIM
no assertion criteria provided
risk factor
(Dec 1, 1997) 		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

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondanèche MC, Tuerlinckx D, Blanche S, Emile JF, Gaillard JL, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova JL.

J Clin Invest. 1997 Dec 1;100(11):2658-64.

PubMed [citation]
PMID:
9389728
PMCID:
PMC508468

Details of each submission

From OMIM, SCV000188932.2

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

Description

In a family in which 1 sib had disseminated BCG infection (IMD27A; 209950) with tuberculoid granulomas and a second sib, who had not been inoculated previously with BCG, had clinical tuberculosis (see 607948), Jouanguy et al. (1997) identified an ile87-to-thr (I187T) missense mutation in the IFNGR1 gene. The amino acid substitution resulted from a T-to-C transition at nucleotide 260.

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

Last Updated: Oct 8, 2024