U.S. flag

An official website of the United States government

  • replaced

NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly) AND Inflammatory bowel disease

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000356798.1

Allele description

NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly)

Gene:
IL10RA:interleukin 10 receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly)
HGVS:
  • NC_000011.10:g.117993348A>G
  • NG_016275.1:g.11958A>G
  • NM_001558.3:c.475A>G
  • NM_001558.4:c.475A>G
  • NP_001549.2:p.Ser159Gly
  • NP_001549.2:p.Ser159Gly
  • LRG_151t1:c.475A>G
  • LRG_151:g.11958A>G
  • NC_000011.9:g.117864063A>G
  • NR_026691.2:n.679A>G
  • Q13651:p.Ser159Gly
Protein change:
S159G
Links:
UniProtKB: Q13651#VAR_016296; dbSNP: rs3135932
NCBI 1000 Genomes Browser:
rs3135932
Molecular consequence:
  • NM_001558.3:c.475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001558.4:c.475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_026691.2:n.679A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inflammatory bowel disease
Identifiers:
MONDO: MONDO:0005265; MedGen: C0021390; OMIM: PS266600

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000367429Illumina Clinical Services Laboratory,Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production.

Gasche C, Grundtner P, Zwirn P, Reinisch W, Shaw SH, Zdanov A, Sarma U, Williams LM, Foxwell BM, Gangl A.

J Immunol. 2003 Jun 1;170(11):5578-82.

PubMed [citation]
PMID:
12759436

Lack of correlation between IL-10R1 S138G loss-of-function allele and IBD in the Lebanese population.

Ghaith OA, El Halabi MM, Abdul-Baki H, Gasche C, Nemeth M, Sharara AI.

Inflamm Bowel Dis. 2010 Nov;16(11):1819-20. doi: 10.1002/ibd.21230. No abstract available.

PubMed [citation]
PMID:
20186944
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000367429.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2020