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NM_001243926.2(MAPKAPK3):c.-436A>T AND Bacteremia, susceptibility to, 2

Germline classification:
risk factor (1 submission)
Last evaluated:
Jun 3, 2010
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:
RCV000023195.2

Allele description

NM_001243926.2(MAPKAPK3):c.-436A>T

Genes:
CISH:cytokine inducible SH2 containing protein [Gene - OMIM - HGNC]
MAPKAPK3:MAPK activated protein kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.2
Genomic location:
Preferred name:
NM_001243926.2(MAPKAPK3):c.-436A>T
HGVS:
  • NC_000003.12:g.50612068A>T
  • NG_023194.1:g.4764T>A
  • NG_051548.1:g.5207A>T
  • NM_001243926.2:c.-436A>T
Nucleotide change:
-292, A-T (rs414171)
Links:
OMIM: 602441.0001; dbSNP: rs414171
NCBI 1000 Genomes Browser:
rs414171
Molecular consequence:
  • NM_001243926.2:c.-436A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Bacteremia, susceptibility to, 2 (BACTS2)
Identifiers:
MONDO: MONDO:0013724; MedGen: C3280647; OMIM: 614383

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044486OMIM
no assertion criteria provided
risk factor
(Jun 3, 2010) 		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

CISH and susceptibility to infectious diseases.

Khor CC, Vannberg FO, Chapman SJ, Guo H, Wong SH, Walley AJ, Vukcevic D, Rautanen A, Mills TC, Chang KC, Kam KM, Crampin AC, Ngwira B, Leung CC, Tam CM, Chan CY, Sung JJ, Yew WW, Toh KY, Tay SK, Kwiatkowski D, Lienhardt C, et al.

N Engl J Med. 2010 Jun 3;362(22):2092-101. doi: 10.1056/NEJMoa0905606. Epub 2010 May 19.

PubMed [citation]
PMID:
20484391
PMCID:
PMC3646238

Details of each submission

From OMIM, SCV000044486.1

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

Description

In a case-control study testing for association between CISH polymorphisms and susceptibility to major infectious diseases involving 8,402 individuals from Gambia, Hong Kong, Keyna, Malawi, and Vietnam, Khor et al. (2010) found that rs414171 at the -292 position relative to the CISH gene results in increased susceptibility to tuberculosis (607948), malaria (611162), and invasive bacterial disease (BACTS2; 614383) (p = 4.58 x -10(-7)). In addition, peripheral blood mononuclear cells obtained from adult subjects carrying the -292 variant, as compared with wildtype cells, showed a muted response to the stimulation of interleukin-2 (IL2; 147680), i.e., 25 to 40% less CISH expression.

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

Last Updated: May 21, 2022