NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) AND Bladder exstrophy-epispadias-cloacal extrophy complex

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 31, 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:: RCV000172899.1

Allele description [Variation Report for NM_030753.5(WNT3):c.271T>C (p.Cys91Arg)]

NM_030753.5(WNT3):c.271T>C (p.Cys91Arg)

Genes:

WNT3:Wnt family member 3 [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_030753.5(WNT3):c.271T>C (p.Cys91Arg)

HGVS:

NC_000017.11:g.46773719A>G
NG_008084.2:g.49998T>C
NM_030753.5:c.271T>CMANE SELECT
NP_110380.1:p.Cys91Arg
NC_000017.10:g.44851085A>G
NM_030753.4:c.271T>C

Protein change:

C91R

Links:

dbSNP: rs786205887

NCBI 1000 Genomes Browser:

rs786205887

Molecular consequence:

NM_030753.5:c.271T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bladder exstrophy-epispadias-cloacal extrophy complex
Synonyms:: Exstrophy of the bladder-epispadias; Bladder exstrophy and epispadias complex; Bladder exstrophy-epispadias-cloacal exstrophy complex
Identifiers:: MONDO: MONDO:0700039; MedGen: C1838703; Orphanet: 93930; OMIM: 600057

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ARM repeat superfamily protein [Arabidopsis thaliana]
ARM repeat superfamily protein [Arabidopsis thaliana]
gi|18408953|ref|NP_566927.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221314	Karolinska institutet	no assertion criteria provided	Likely pathogenic (Mar 31, 2015)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000221314

Karolinska institutet

no assertion criteria provided

Likely pathogenic
(Mar 31, 2015)

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Karolinska institutet, SCV000221314.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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