NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) AND Blau syndrome

Germline classification:: Benign (2 submissions)
Last evaluated:: Apr 27, 2017
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:: RCV000084073.15

Allele description [Variation Report for NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)]

NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)

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.989A>C (p.Asp330Ala)

HGVS:

NC_000016.10:g.50710981A>C
NG_007508.1:g.18843A>C
NM_001293557.2:c.989A>C
NM_001370466.1:c.989A>CMANE SELECT
NM_022162.3:c.1070A>C
NP_001280486.1:p.Asp330Ala
NP_001357395.1:p.Asp330Ala
NP_071445.1:p.Asp357Ala
LRG_177t1:c.1070A>C
LRG_177:g.18843A>C
NC_000016.9:g.50744892A>C
NM_022162.1:c.1070A>C
NM_022162.2:c.1070A>C
NR_163434.1:n.1054A>C
Q9HC29:p.Asp357Ala

Protein change:

D330A

Links:

UniProtKB: Q9HC29#VAR_073229; dbSNP: rs104895469

NCBI 1000 Genomes Browser:

rs104895469

Molecular consequence:

NM_001293557.2:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370466.1:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022162.3:c.1070A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_163434.1:n.1054A>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000116201	Unité médicale des maladies autoinflammatoires, CHRU Montpellier	no classification provided	not provided	unknown	not provided
SCV001275003	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000116201

Unité médicale des maladies autoinflammatoires, CHRU Montpellier

no classification provided

not provided

unknown

not provided

SCV001275003

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116201.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV001275003.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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