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NM_022162.3(NOD2):c.1241A>G (p.Asn414Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Oct 4, 2017
Accession:
VCV000097824.1
Variation ID:
97824
Description:
single nucleotide variant
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NM_022162.3(NOD2):c.1241A>G (p.Asn414Ser)

Allele ID
103716
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q12.1
Genomic location
16: 50711152 (GRCh38) GRCh38 UCSC
16: 50745063 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.50711152A>G
NC_000016.9:g.50745063A>G
NM_001293557.2:c.1160A>G NP_001280486.1:p.Asn387Ser missense
... more HGVS
Protein change
N414S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
UniProtKB: Q9HC29#VAR_012681
dbSNP: rs104895429
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 4, 2017 RCV000694007.1
not provided 1 no assertion provided - RCV000084079.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NOD2 - - GRCh38
GRCh37
274 298

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 04, 2017)
criteria provided, single submitter
Method: clinical testing
Inflammatory bowel disease 1
Blau syndrome
Allele origin: germline
Invitae
Accession: SCV000822432.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces asparagine with serine at codon 414 of the NOD2 protein (p.Asn414Ser). The asparagine residue is highly conserved and there is a ... (more)
not provided
(-)
no assertion provided
Method: not provided
Sarcoidosis, early-onset
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000116208.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 186580 and 266600
Evidence details

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Chamaillard M Proceedings of the National Academy of Sciences of the United States of America 2003 PMID: 12626759
CARD15/NOD2 analyses in spondylarthropathy. Miceli-Richard C Arthritis and rheumatism 2002 PMID: 12115249
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Lesage S American journal of human genetics 2002 PMID: 11875755
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Hugot JP Nature 2001 PMID: 11385576

Record last updated Aug 25, 2019