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NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) AND Blau syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 28, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000389442.16

Allele description [Variation Report for NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)]

NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)

Genes:
CYLD-AS1:CYLD antisense RNA 1 [Gene - HGNC]
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
HGVS:
  • NC_000016.10:g.50729870dup
  • NC_000016.9:g.50763781dupC
  • NG_007508.1:g.37732dup
  • NM_001293557.2:c.2938dup
  • NM_001370466.1:c.2938dupMANE SELECT
  • NM_022162.3:c.3019dup
  • NP_001280486.1:p.Leu980fs
  • NP_001357395.1:p.Leu980fs
  • NP_071445.1:p.Leu1007fs
  • LRG_177t1:c.3019dup
  • LRG_177:g.37732dup
  • NC_000016.9:g.50763778_50763779insC
  • NC_000016.9:g.50763781dup
  • NC_000016.9:g.50763781dup
  • NM_001370466.1:c.2938dup
  • NM_022162.1:c.3019dupC
  • NM_022162.2:c.3019dupC
  • NR_163434.1:n.3150dup
Protein change:
L1007fs
Links:
OMIM: 605956.0001; OMIM: 605956.0012; dbSNP: rs2066847
NCBI 1000 Genomes Browser:
rs2066847

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
SCV000397306Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001140101Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000397306.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001140101.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024