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NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 25, 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:
RCV002502245.8

Allele description [Variation Report for NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)]

NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)

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.2093C>G (p.Ala698Gly)
HGVS:
  • NC_000016.10:g.50712085C>G
  • NG_007508.1:g.19947C>G
  • NM_001293557.2:c.2093C>G
  • NM_001370466.1:c.2093C>GMANE SELECT
  • NM_022162.3:c.2174C>G
  • NP_001280486.1:p.Ala698Gly
  • NP_001357395.1:p.Ala698Gly
  • NP_071445.1:p.Ala725Gly
  • LRG_177t1:c.2174C>G
  • LRG_177:g.19947C>G
  • NC_000016.9:g.50745996C>G
  • NM_022162.1:c.2174C>G
  • NM_022162.2:c.2174C>G
  • NR_163434.1:n.2158C>G
  • Q9HC29:p.Ala725Gly
Protein change:
A698G
Links:
UniProtKB: Q9HC29#VAR_012692; dbSNP: rs5743278
NCBI 1000 Genomes Browser:
rs5743278
Molecular consequence:
  • NM_001293557.2:c.2093C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.2093C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.2174C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.2158C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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:
Yao syndrome
Synonyms:
Susceptibility to Yao syndrome
Identifiers:
MONDO: MONDO:0015019; MedGen: C4310620; OMIM: 617321
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
SCV002811801Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(May 25, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002811801.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024