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NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) AND Blau syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 1, 2005
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000004966.16

Allele description [Variation Report for NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)]

NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)

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.1066G>A (p.Glu356Lys)
HGVS:
  • NC_000016.10:g.50711058G>A
  • NG_007508.1:g.18920G>A
  • NM_001293557.2:c.1066G>A
  • NM_001370466.1:c.1066G>AMANE SELECT
  • NM_022162.3:c.1147G>A
  • NP_001280486.1:p.Glu356Lys
  • NP_001357395.1:p.Glu356Lys
  • NP_071445.1:p.Glu383Lys
  • LRG_177t1:c.1147G>A
  • LRG_177:g.18920G>A
  • LRG_177p1:p.Glu383Lys
  • NC_000016.9:g.50744969G>A
  • NM_022162.1:c.1147G>A
  • NM_022162.2:c.1147G>A
  • NR_163434.1:n.1131G>A
  • Q9HC29:p.Glu383Lys
Protein change:
E356K; GLU383LYS
Links:
UniProtKB: Q9HC29#VAR_023823; OMIM: 605956.0011; dbSNP: rs104895477
NCBI 1000 Genomes Browser:
rs104895477
Molecular consequence:
  • NM_001293557.2:c.1066G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.1066G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.1131G>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025142OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2005) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000116205Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providedunknownnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

A new CARD15 mutation in Blau syndrome.

van Duist MM, Albrecht M, Podswiadek M, Giachino D, Lengauer T, Punzi L, De Marchi M.

Eur J Hum Genet. 2005 Jun;13(6):742-7.

PubMed [citation]
PMID:
15812565

Details of each submission

From OMIM, SCV000025142.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a mother and daughter with Blau syndrome (BLAUS; 186580), van Duist et al. (2005) identified a heterozygous 1147G-A transition in exon 4 of the CARD15 gene, resulting in a glu383-to-lys (E383K) substitution. The mutation is in a highly conserved region in the central nucleotide-binding NACHT domain and may result in increased signaling.

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

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116205.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024