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NM_001126128.2(PROK2):c.-4C>A AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 29, 2024
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:
RCV003994180.1

Allele description [Variation Report for NM_001126128.2(PROK2):c.-4C>A]

NM_001126128.2(PROK2):c.-4C>A

Gene:
PROK2:prokineticin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001126128.2(PROK2):c.-4C>A
HGVS:
  • NC_000003.12:g.71785056G>T
  • NG_008275.1:g.5151C>A
  • NM_001126128.1:c.-4C>A
  • NM_001126128.2:c.-4C>AMANE SELECT
  • NM_021935.4:c.-4C>A
  • NC_000003.11:g.71834207G>T
  • NM_001126128.2:c.-4C>A
Links:
dbSNP: rs552496938
NCBI 1000 Genomes Browser:
rs552496938
Molecular consequence:
  • NM_001126128.2:c.-4C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_021935.4:c.-4C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004813781Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Feb 29, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813781.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: PROK2 c.-4C>A is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.00013 in 1237522 control chromosomes, predominantly at a frequency of 0.0024 within the African or African-American subpopulation in the gnomAD database. c.-4C>A has been reported in the literature in at-least one individual affected with Kallmann syndrome without strong evidence for causality (example: Dode_2006). This report does not provide unequivocal conclusions about association of the variant with Hypogonadotropic Hypogonadism 4 With Or Without Anosmia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 17054399). ClinVar contains an entry for this variant (Variation ID: 801987). Based on the evidence outlined above, the variant was classified as benign.

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

Last Updated: May 19, 2024