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NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) AND Inflammatory bowel disease 1

Germline classification:
Likely risk allele; risk factor (2 submissions)
Last evaluated:
Aug 22, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001781184.10

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:
Inflammatory bowel disease 1 (IBD1)
Synonyms:
Inflammatory bowel disease 1, Crohn disease; INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1
Identifiers:
MONDO: MONDO:0009960; MedGen: CN260071; OMIM: 266600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025131OMIM
no assertion criteria provided
risk factor
(Jan 31, 2017) 		not providedliterature only

SCV002577433Laboratory of Medical Genetics, National & Kapodistrian University of Athens
no assertion criteria provided
Likely risk allele
(Aug 22, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000025131.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002577433.1

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

Last Updated: Nov 24, 2024