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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116201Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providedunknownnot provided

SCV001275003Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

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

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

From Illumina Laboratory Services, Illumina, SCV001275003.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

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

Last Updated: Sep 16, 2024