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NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter) AND Diarrhea 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000714963.1

Allele description [Variation Report for NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)]

NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)

Gene:
WNT2B:Wnt family member 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)
HGVS:
  • NC_000001.11:g.112514896C>T
  • NG_052953.1:g.53356C>T
  • NM_001291880.1:c.-72C>T
  • NM_004185.4:c.148C>T
  • NM_024494.3:c.205C>TMANE SELECT
  • NP_004176.2:p.Arg50Ter
  • NP_078613.1:p.Arg69Ter
  • NC_000001.10:g.113057518C>T
  • NM_024494.2:c.205C>T
Protein change:
R50*; ARG69TER
Links:
OMIM: 601968.0001; dbSNP: rs370244148
NCBI 1000 Genomes Browser:
rs370244148
Molecular consequence:
  • NM_001291880.1:c.-72C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004185.4:c.148C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024494.3:c.205C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Diarrhea 9
Identifiers:
MONDO: MONDO:0032575; MedGen: C4748517; OMIM: 618168

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000845728OMIM
no assertion criteria provided
Pathogenic
(Oct 31, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.

O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB.

Am J Hum Genet. 2018 Jul 5;103(1):131-137. doi: 10.1016/j.ajhg.2018.05.007. Epub 2018 Jun 14.

PubMed [citation]
PMID:
29909964
PMCID:
PMC6035368

Details of each submission

From OMIM, SCV000845728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Kuwaiti brother and sister with neonatal-onset chronic diarrhea (DIAR9; 618168), O'Connell et al. (2018) identified homozygosity for a c.205C-T transition (c.205C-T, NM_024494) in the WNT2B gene, resulting in an arg69-to-ter (R69X) substitution. Their unaffected parents and 3 unaffected sibs were heterozygous for the mutation, which was detected in heterozygous state 3 times in the gnomAD database and 1 time in the ExAC database. Immunofluorescence showed diminished staining for OLFM4 (614061), a marker for intestinal stem cells, and enteroid cultures generated from patient intestinal epithelium could not be expanded and did not survive passage. Quantitative RT-PCR of patient enteroids showed a 10-fold increase in LEF1 (153245) mRNA and a 100-fold reduction in TLR4 (603030) expression compared to controls, indicating alterations in canonical WNT and microbial pattern-recognition signaling.

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

Last Updated: Apr 23, 2022