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NM_173689.7(CRB2):c.1897C>T (p.Arg633Trp) AND Ventriculomegaly-cystic kidney disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 8, 2015
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:
RCV000157662.5

Allele description [Variation Report for NM_173689.7(CRB2):c.1897C>T (p.Arg633Trp)]

NM_173689.7(CRB2):c.1897C>T (p.Arg633Trp)

Gene:
CRB2:crumbs cell polarity complex component 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.3
Genomic location:
Preferred name:
NM_173689.7(CRB2):c.1897C>T (p.Arg633Trp)
HGVS:
  • NC_000009.12:g.123370950C>T
  • NG_051311.1:g.21886C>T
  • NM_173689.7:c.1897C>TMANE SELECT
  • NP_775960.4:p.Arg633Trp
  • NC_000009.11:g.126133229C>T
  • NR_104603.2:n.1011C>T
  • Q5IJ48:p.Arg633Trp
Protein change:
R633W; ARG633TRP
Links:
UniProtKB: Q5IJ48#VAR_073269; OMIM: 609720.0009; dbSNP: rs730880377
NCBI 1000 Genomes Browser:
rs730880377
Molecular consequence:
  • NM_173689.7:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104603.2:n.1011C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Ventriculomegaly-cystic kidney disease
Synonyms:
Ventriculomegaly with cystic kidney disease
Identifiers:
MONDO: MONDO:0009063; MedGen: C1857423; Orphanet: 443988; OMIM: 219730

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207613OMIM
no assertion criteria provided
Pathogenic
(Jan 8, 2015) 		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

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, Alsadah A, Salem F, Schmajuk G, Mehta L.

Am J Hum Genet. 2015 Jan 8;96(1):162-9. doi: 10.1016/j.ajhg.2014.11.013. Epub 2014 Dec 31.

PubMed [citation]
PMID:
25557780
PMCID:
PMC4289687

Details of each submission

From OMIM, SCV000207613.3

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

Description

In a male infant with lethal ventriculomegaly with cystic kidney disease (VMCKD; 219730), Slavotinek et al. (2015) identified a homozygous 1897C-T transition in the CRB2 gene, resulting in an arg633-to-trp (R633W) substitution in the extracellular region. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not present in the Exome Variant Server database. Whole-exome sequencing also identified a heterozygous splice site mutation in the NPHS1 gene (602716) inherited from the patient's unaffected father; a second pathogenic variant in NPHS1 was not detected. Functional studies of the CRB2 variant were not performed.

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

Last Updated: Nov 29, 2022