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NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 13, 2020
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:
RCV001811130.13

Allele description [Variation Report for NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)]

NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)

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.665A>G (p.Glu222Gly)
HGVS:
  • NC_000016.10:g.50710657A>G
  • NG_007508.1:g.18519A>G
  • NM_001293557.2:c.665A>G
  • NM_001370466.1:c.665A>GMANE SELECT
  • NM_022162.3:c.746A>G
  • NP_001280486.1:p.Glu222Gly
  • NP_001357395.1:p.Glu222Gly
  • NP_071445.1:p.Glu249Gly
  • LRG_177:g.18519A>G
  • NC_000016.9:g.50744568A>G
  • NM_022162.2:c.746A>G
  • NR_163434.1:n.730A>G
Protein change:
E222G
Links:
dbSNP: rs117836686
NCBI 1000 Genomes Browser:
rs117836686
Molecular consequence:
  • NM_001293557.2:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.730A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001477585ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Mar 13, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001477585.1

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

Description

The NOD2 c.746A>G; p.Glu249Gly variant (rs117836686), to our knowledge, is not reported in the medical literature or gene specific databases. The variant is reported in the ClinVar database (Variation ID: 531608) and is found in the European (non-Finnish) population with an allele frequency of 0.03% (39/129,102 alleles) in the Genome Aggregation Database. The glutamic acid at codon 249 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Gly249Gly variant is uncertain at this time.

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

Last Updated: Nov 3, 2024