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NM_001083961.2(WDR62):c.669del (p.Trp224fs) AND Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 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:
RCV001009331.2

Allele description [Variation Report for NM_001083961.2(WDR62):c.669del (p.Trp224fs)]

NM_001083961.2(WDR62):c.669del (p.Trp224fs)

Gene:
WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_001083961.2(WDR62):c.669del (p.Trp224fs)
HGVS:
  • NC_000019.10:g.36067413del
  • NG_028101.1:g.17533del
  • NM_001083961.2:c.669delMANE SELECT
  • NM_173636.5:c.669del
  • NP_001077430.1:p.Trp224fs
  • NP_775907.4:p.Trp224fs
  • NC_000019.9:g.36558315del
  • NC_000019.9:g.36558315delC
Protein change:
W224fs
Links:
dbSNP: rs1599760058
NCBI 1000 Genomes Browser:
rs1599760058
Molecular consequence:
  • NM_001083961.2:c.669del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173636.5:c.669del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
variation affecting protein structure [Variation Ontology: 0060]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001162775Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 24, 2020) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indianinheritedyes21not providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS, SCV001162775.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian2not providednot providedresearch PubMed (1)

Description

The same variant is detected in the sister of the proband, presented with the microcephaly

Description

This variant is detected in sibship presented with microcephaly, born to a consanguineous parents. The variant is a frameshift deletion in the exon 6 of the WDR62 gene. Variation in this gene is reported to cause microcephaly.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided1not provided

Last Updated: Apr 23, 2022