NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) AND not specified

Clinical significance:Likely benign (Last evaluated: Oct 24, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000178334.1

Allele description [Variation Report for NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)]

NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)

Gene:
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
HGVS:
  • NC_000016.10:g.50712018C>T
  • NG_007508.1:g.19880C>T
  • NM_001293557.2:c.2026C>T
  • NM_001370466.1:c.2026C>TMANE SELECT
  • NM_022162.3:c.2107C>T
  • NP_001280486.1:p.Arg676Cys
  • NP_001357395.1:p.Arg676Cys
  • NP_071445.1:p.Arg703Cys
  • LRG_177t1:c.2107C>T
  • LRG_177:g.19880C>T
  • NC_000016.9:g.50745929C>T
  • NM_022162.1:c.2107C>T
  • NM_022162.2:c.2107C>T
  • NR_163434.1:n.2091C>T
  • Q9HC29:p.Arg703Cys
Protein change:
R676C
Links:
UniProtKB: Q9HC29#VAR_012690; dbSNP: rs5743277
NCBI 1000 Genomes Browser:
rs5743277
Molecular consequence:
  • NM_001293557.2:c.2026C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.2026C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.2107C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.2091C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000230397EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Oct 24, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.

Lesage S, Zouali H, C├ęzard JP, Colombel JF, Belaiche J, Almer S, Tysk C, O'Morain C, Gassull M, Binder V, Finkel Y, Modigliani R, Gower-Rousseau C, Macry J, Merlin F, Chamaillard M, Jannot AS, Thomas G, Hugot JP; EPWG-IBD Group.; EPIMAD Group.; GETAID Group..

Am J Hum Genet. 2002 Apr;70(4):845-57. Epub 2002 Mar 1.

PubMed [citation]
PMID:
11875755
PMCID:
PMC379113

Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases.

Chamaillard M, Philpott D, Girardin SE, Zouali H, Lesage S, Chareyre F, Bui TH, Giovannini M, Zaehringer U, Penard-Lacronique V, Sansonetti PJ, Hugot JP, Thomas G.

Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3455-60. Epub 2003 Mar 7.

PubMed [citation]
PMID:
12626759
PMCID:
PMC152314
See all PubMed Citations (4)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000230397.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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