NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Nov 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001086759.2

Allele description [Variation Report for NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)]

NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)

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.2026C>T (p.Arg676Cys)
HGVS:
  • NC_000016.10:g.50712018C>T
  • NG_007508.1:g.19880C>T
  • NM_001293557.2:c.2026C>T
  • NM_001370466.1:c.2026C>TMANE SELECT
  • NM_022162.3:c.2107C>T
  • NP_001280486.1:p.Arg676Cys
  • NP_001357395.1:p.Arg676Cys
  • NP_071445.1:p.Arg703Cys
  • LRG_177t1:c.2107C>T
  • LRG_177:g.19880C>T
  • NC_000016.9:g.50745929C>T
  • NM_022162.1:c.2107C>T
  • NM_022162.2:c.2107C>T
  • NR_163434.1:n.2091C>T
  • Q9HC29:p.Arg703Cys
Protein change:
R676C
Links:
UniProtKB: Q9HC29#VAR_012690; dbSNP: rs5743277
NCBI 1000 Genomes Browser:
rs5743277
Molecular consequence:
  • NM_001293557.2:c.2026C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370466.1:c.2026C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022162.3:c.2107C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163434.1:n.2091C>T - 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:
Inflammatory bowel disease 1 (IBD1)
Synonyms:
Inflammatory bowel disease 1, Crohn disease; Enteritis, Granulomatous
Identifiers:
MONDO: MONDO:0009960; MedGen: CN260071; OMIM: 266600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000759547Invitaecriteria provided, single submitter
Likely benign
(Nov 25, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000759547.4

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

Last Updated: Nov 27, 2021

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