U.S. flag

An official website of the United States government

NM_030761.5(WNT4):c.247C>T (p.Arg83Trp) AND Mullerian aplasia and hyperandrogenism

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2007
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:
RCV000006690.2

Allele description [Variation Report for NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)]

NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)

Gene:
WNT4:Wnt family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)
Other names:
R83C
HGVS:
  • NC_000001.11:g.22129682G>A
  • NG_008974.1:g.18345C>T
  • NM_030761.5:c.247C>TMANE SELECT
  • NP_110388.2:p.Arg83Trp
  • NC_000001.10:g.22456175G>A
Protein change:
R83W; ARG83CYS
Links:
OMIM: 603490.0003; dbSNP: rs121908652
NCBI 1000 Genomes Browser:
rs121908652
Molecular consequence:
  • NM_030761.5:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mullerian aplasia and hyperandrogenism
Synonyms:
MULLERIAN DUCT FAILURE AND HYPERANDROGENISM
Identifiers:
MONDO: MONDO:0008019; MedGen: C2675014; Orphanet: 247768; OMIM: 158330

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026873OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2007) 		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

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.

Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ.

Hum Reprod. 2007 Jan;22(1):224-9. Epub 2006 Sep 7.

PubMed [citation]
PMID:
16959810

Details of each submission

From OMIM, SCV000026873.1

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

Description

In a 19.5-year-old 46,XX woman with absence of mullerian duct derivatives and clinical and biochemical androgen excess (158330), Biason-Lauber et al. (2007) identified heterozygosity for a C-T transition in exon 2 of the WNT4 gene, resulting in an arg83-to-cys (R83C) substitution. Functional studies in OVCAR3 cells demonstrated that R83C is a loss-of-function mutation with dominant negative properties. The mutation was not found in the unaffected mother and sibs, or in 100 controls; the father's DNA was unavailable for analysis.

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

Last Updated: Apr 23, 2022