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NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 15, 2022
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:
RCV002899664.3

Allele description [Variation Report for NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro)]

NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro)

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.920G>C (p.Arg307Pro)
HGVS:
  • NC_000016.10:g.50710912G>C
  • NG_007508.1:g.18774G>C
  • NM_001293557.2:c.920G>C
  • NM_001370466.1:c.920G>CMANE SELECT
  • NM_022162.3:c.1001G>C
  • NP_001280486.1:p.Arg307Pro
  • NP_001357395.1:p.Arg307Pro
  • NP_071445.1:p.Arg334Pro
  • NP_071445.1:p.Arg334Pro
  • LRG_177t1:c.1001G>C
  • LRG_177:g.18774G>C
  • LRG_177p1:p.Arg334Pro
  • NC_000016.9:g.50744823G>C
  • NM_022162.1:c.1001G>C
  • NR_163434.1:n.985G>C
Protein change:
R307P
Molecular consequence:
  • NM_001293557.2:c.920G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.920G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.1001G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.985G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Blau syndrome (BLAUS)
Synonyms:
Synovitis granulomatous with uveitis and cranial neuropathies; Arthrocutaneouveal granulomatosis; Granulomatosis, familial, Blau type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008523; MedGen: C5201146; Orphanet: 90340; OMIM: 186580
Name:
Regional enteritis
Synonyms:
Enteritis, Granulomatous
Identifiers:
MeSH: D003424; MedGen: C0678202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003243898Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 15, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

CARD15 mutations in Blau syndrome.

Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, Hugot JP.

Nat Genet. 2001 Sep;29(1):19-20.

PubMed [citation]
PMID:
11528384

Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.

Tanabe T, Chamaillard M, Ogura Y, Zhu L, Qiu S, Masumoto J, Ghosh P, Moran A, Predergast MM, Tromp G, Williams CJ, Inohara N, Núñez G.

EMBO J. 2004 Apr 7;23(7):1587-97. Epub 2004 Mar 25.

PubMed [citation]
PMID:
15044951
PMCID:
PMC391079
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003243898.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant has not been reported in the literature in individuals affected with NOD2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Arg334 amino acid residue in NOD2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11528384, 15044951, 15459013, 17157607, 20199415, 22509093). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NOD2 protein function. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 334 of the NOD2 protein (p.Arg334Pro).

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

Last Updated: Sep 29, 2024