NM_001370466.1(NOD2):c.2886-17T>C AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 4, 2021
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:: RCV002993448.10

Allele description [Variation Report for NM_001370466.1(NOD2):c.2886-17T>C]

NM_001370466.1(NOD2):c.2886-17T>C

Genes:

CYLD-AS1:CYLD antisense RNA 1 [Gene - HGNC]
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.2886-17T>C

HGVS:

NC_000016.10:g.50729801T>C
NG_007508.1:g.37663T>C
NM_001293557.2:c.2886-17T>C
NM_001370466.1:c.2886-17T>CMANE SELECT
NM_022162.3:c.2967-17T>C
LRG_177:g.37663T>C
NC_000016.9:g.50763712T>C

Links:

dbSNP: rs757094587

NCBI 1000 Genomes Browser:

rs757094587

Molecular consequence:

NM_001293557.2:c.2886-17T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001370466.1:c.2886-17T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_022162.3:c.2967-17T>C - intron variant - [Sequence Ontology: SO:0001627]

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

Name:: Regional enteritis
Synonyms:: Enteritis, Granulomatous
Identifiers:: MeSH: D003424; MedGen: C0678202

Recent activity

Clear Turn Off Turn On

Mycobacterium tuberculosis 3280CJ
Mycobacterium tuberculosis 3280CJ
TB-ARC - Romania

BioProject
F-actin-capping protein subunit beta isoform X1 [Mus musculus]
F-actin-capping protein subunit beta isoform X1 [Mus musculus]
gi|568930495|ref|XP_006538567.1|

Protein
Continuous-trait probabilistic model for comparing multi-species functional geno...
Continuous-trait probabilistic model for comparing multi-species functional genomic data
Continuous-trait probabilistic model for comparing multi-species functional genomic data

BioProject
PREDICTED: Cariama cristata polypeptide N-acetylgalactosaminyltransferase 11 (GA...
PREDICTED: Cariama cristata polypeptide N-acetylgalactosaminyltransferase 11 (GALNT11), partial mRNA
gi|698395382|ref|XM_009706884.1|

Nucleotide
recombination activating protein 2, partial [Chiloglanis sp. 'whitelips']
recombination activating protein 2, partial [Chiloglanis sp. 'whitelips']
gi|2567158086|gb|WMD26861.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002367892	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jul 4, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002367892

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jul 4, 2021)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002367892.3

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

#	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

ClinVar

Relating variation to medicine