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NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs) AND Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 6, 2021
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:
RCV003985097.1

Allele description [Variation Report for NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)]

NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)

Gene:
WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)
HGVS:
  • NC_000019.10:g.36104598dup
  • NG_028101.1:g.54718dup
  • NM_001083961.2:c.4234dupMANE SELECT
  • NM_173636.5:c.4219dup
  • NP_001077430.1:p.Leu1412fs
  • NP_775907.4:p.Leu1407fs
  • NC_000019.9:g.36595500dup
  • NM_001083961.1:c.4234dup
  • NM_001083961.1:c.4234dupC
Protein change:
L1407fs
Links:
dbSNP: rs1599851667
NCBI 1000 Genomes Browser:
rs1599851667
Molecular consequence:
  • NM_001083961.2:c.4234dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173636.5:c.4219dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Synonyms:
Primary autosomal recessive microcephaly 2; MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS
Identifiers:
MONDO: MONDO:0011435; MedGen: C1858535; Orphanet: 2512; OMIM: 604317

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801448Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Likely pathogenic
(Aug 6, 2021) 		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, SCV004801448.1

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

Description

The WDR62 c.4234dupC p.(Leu1412ProfsTer2) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. Variants downstream of the p.(Leu1412ProfsTer2) variant have also been reported (Landrum et al. 2016; Zombor et al. 2019). This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.000024 in the African/African-American population (version 3.1.2). Based on the available evidence the c.4234dupC p.(Leu1412ProfsTer2) variant is classified as likely pathogenic for microcephaly with or without cortical malformations.

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

Last Updated: Mar 23, 2024