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NM_001126128.2(PROK2):c.297dup (p.Gly100fs) AND Hypogonadotropic hypogonadism 4 with or without anosmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 20, 2006
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:
RCV002295299.1

Allele description [Variation Report for NM_001126128.2(PROK2):c.297dup (p.Gly100fs)]

NM_001126128.2(PROK2):c.297dup (p.Gly100fs)

Gene:
PROK2:prokineticin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001126128.2(PROK2):c.297dup (p.Gly100fs)
HGVS:
  • NC_000003.12:g.71772822dup
  • NG_008275.1:g.17390dup
  • NM_001126128.2:c.297dupMANE SELECT
  • NM_021935.4:c.234dup
  • NP_001119600.1:p.Gly100fs
  • NP_068754.1:p.Gly79fs
  • NC_000003.11:g.71821967_71821968insA
  • NC_000003.11:g.71821973dup
  • NM_001126128.1:c.297dup
  • NM_001126128.1:c.297dupT
  • NM_001126128.2:c.297dupTMANE SELECT
Protein change:
G100fs
Links:
OMIM: 607002.0002; dbSNP: rs768413190
NCBI 1000 Genomes Browser:
rs768413190
Molecular consequence:
  • NM_001126128.2:c.297dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021935.4:c.234dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hypogonadotropic hypogonadism 4 with or without anosmia (HH4)
Synonyms:
KAL4; Kallmann syndrome 4; HYPOGONADOTROPIC HYPOGONADISM 4 WITH ANOSMIA
Identifiers:
MONDO: MONDO:0012528; MedGen: C3552343; Orphanet: 478; OMIM: 610628

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023950OMIM
no assertion criteria provided
Pathogenic
(Oct 20, 2006) 		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

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP.

PLoS Genet. 2006 Oct 20;2(10):e175. Epub 2006 Sep 1.

PubMed [citation]
PMID:
17054399
PMCID:
PMC1617130

Details of each submission

From OMIM, SCV000023950.2

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

Description

In affected members of a family with manifestations of Kallmann syndrome-4 (HH4; 610628) in 4 generations, Dode et al. (2006) identified heterozygosity for a 1-nucleotide insertion, a T between nucleotides 234 and 235, in exon 4 of the PROK2 gene, predicted to result in a frameshift at codon 79 with a premature termination at codon 100 (79fsX100). The most recent generation of the family had 2 sisters with full Kallmann syndrome, a brother with hypogonadism only, and 3 unaffected sisters. The mother, maternal grandfather, and great grandfather had anosmia only. The mutation was not found in 500 alleles from ethnically matched (Caucasian) control individuals.

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

Last Updated: Oct 13, 2024