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

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000368536.2

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]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000397257Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Granulomatous disease associated with NOD2 sequence variants and familial camptodactyly: An intermediate form of NOD2-associated diseases?

Shen M, Moran R, Tomecki KJ, Yao Q.

Semin Arthritis Rheum. 2015 Dec;45(3):357-60. doi: 10.1016/j.semarthrit.2015.05.007. Epub 2015 May 21.

PubMed [citation]
PMID:
26164256

Granulomatous pneumonitis associated with adult-onset Blau-like syndrome.

Yao Q, Piliang M, Nicolacakis K, Arrossi A.

Am J Respir Crit Care Med. 2012 Sep 1;186(5):465-6. No abstract available.

PubMed [citation]
PMID:
22942351

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000397257.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Dec 4, 2021

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