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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 14, 2022
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:: RCV002260960.10

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:: Autoinflammatory syndrome
Identifiers:: MONDO: MONDO:0019751; MedGen: C3890737

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002542721	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 14, 2022)	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

SCV002542721

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 14, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002542721.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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