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NM_014264.5(PLK4):c.126+1G>A AND PLK4-related microcephaly and growth failure with or without ocular features

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 7, 2020
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:
RCV001270840.4

Allele description [Variation Report for NM_014264.5(PLK4):c.126+1G>A]

NM_014264.5(PLK4):c.126+1G>A

Gene:
PLK4:polo like kinase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.1
Genomic location:
Preferred name:
NM_014264.5(PLK4):c.126+1G>A
HGVS:
  • NC_000004.12:g.127881927G>A
  • NG_041821.1:g.6067G>A
  • NM_001190799.2:c.126+1G>A
  • NM_001190801.2:c.3+1G>A
  • NM_014264.5:c.126+1G>AMANE SELECT
  • NC_000004.11:g.128803082G>A
  • NM_014264.4:c.126+1G>A
Links:
dbSNP: rs1456235557
NCBI 1000 Genomes Browser:
rs1456235557
Molecular consequence:
  • NM_001190799.2:c.126+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001190801.2:c.3+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_014264.5:c.126+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
PLK4-related microcephaly and growth failure with or without ocular features
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451609Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Likely pathogenic
(Aug 7, 2020) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451609.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PLK4 c.126+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Experimental data evaluating the impacts of the c.126+1G>A variant at the transcript and protein level are unavailable. Of note, while this variant has the potential to result in an in-frame event, it is also located within the protein kinase domain and is therefore predicted to be damaging. Based on the collective evidence and application of ACMG criteria, the c.126+1G>A variant is classified as likely pathogenic for PLK4-related microcephaly and growth failure with or without ocular features.

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

Last Updated: Jun 10, 2023