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NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) AND Hypogonadotropic hypogonadism 14 with or without anosmia

Germline classification:
Benign (3 submissions)
Last evaluated:
Aug 22, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000988456.6

Allele description [Variation Report for NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)]

NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)

Gene:
WDR11:WD repeat domain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.12
Genomic location:
Preferred name:
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
HGVS:
  • NC_000010.11:g.120906788T>G
  • NG_023290.1:g.60614T>G
  • NM_018117.12:c.3450T>GMANE SELECT
  • NP_060587.8:p.Phe1150Leu
  • NC_000010.10:g.122666300T>G
  • NM_018117.11:c.3450T>G
  • Q9BZH6:p.Phe1150Leu
Protein change:
F1150L; PHE1150LEU
Links:
UniProtKB: Q9BZH6#VAR_069199; UniProtKB/Swiss-Prot: VAR_069199; OMIM: 606417.0001; dbSNP: rs139007744
NCBI 1000 Genomes Browser:
rs139007744
Molecular consequence:
  • NM_018117.12:c.3450T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypogonadotropic hypogonadism 14 with or without anosmia (HH14)
Synonyms:
HYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA
Identifiers:
MONDO: MONDO:0013926; MedGen: C3540450; Orphanet: 478; OMIM: 614858

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053523OMIM
no assertion criteria provided
Pathogenic
(Oct 8, 2010)
germlineliterature only

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

SCV001138179Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Benign
(Aug 22, 2023)
germlineclinical testing

Citation Link,

SCV004099410Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Uncertain significance
(Oct 30, 2023)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, et al.

Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018.

PubMed [citation]
PMID:
20887964
PMCID:
PMC2948809

Details of each submission

From OMIM, SCV000053523.2

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

Description

In a man with incomplete hypogonadotropic hypogonadism and an unrelated woman with complete HH, both of whom were normosmic (HH14; 614858), Kim et al. (2010) identified heterozygosity for a 3450T-G transversion in exon 28 of the WDR11 gene, resulting in a phe1150-to-leu (F1150L) substitution at a highly conserved residue near the C terminus. The mutation was not found in 420 white controls. Haplotype analysis indicated a shared haplotype around WDR11, suggesting that the 2 patients were likely to be descended from a recent common ancestor.

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

From Mendelics, SCV001138179.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099410.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024