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NM_182758.4(WDR72):c.2019dup (p.Trp674fs) AND Amelogenesis imperfecta

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 2, 2017
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:
RCV004018350.2

Allele description [Variation Report for NM_182758.4(WDR72):c.2019dup (p.Trp674fs)]

NM_182758.4(WDR72):c.2019dup (p.Trp674fs)

Gene:
WDR72:WD repeat domain 72 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.3
Genomic location:
Preferred name:
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)
HGVS:
  • NC_000015.10:g.53616190dup
  • NG_017034.2:g.148476dup
  • NM_182758.4:c.2019dupMANE SELECT
  • NP_877435.3:p.Trp674fs
  • NC_000015.10:g.53616186_53616187insT
  • NC_000015.9:g.53908387dup
  • NR_102334.2:n.2259dup
Protein change:
W674fs
Molecular consequence:
  • NM_182758.4:c.2019dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_102334.2:n.2259dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Amelogenesis imperfecta (AI)
Synonyms:
Congenital enamel hypoplasia
Identifiers:
MONDO: MONDO:0019507; MedGen: C0002452; OMIM: PS104500; Human Phenotype Ontology: HP:0000705

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004848079Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Pathogenic
(Aug 2, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004848079.1

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

Description

The p.Trp674MetfsX3 variant in WDR72 has not been previously reported in individuals with disease, but has been identified in 5/23,944 of African chromosomes by the Genome Aggregation Consortium gnomAD http://gnomad.broadinstitute.org; dbSNP rs779460257). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 674 and leads to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Biallelic loss of function of the WDR72 gene is associated to non-syndromic amelogenesis imperfecta. In summary, although additional studies are required to fully establish its clinical significance, the p.Trp674MetfsX3 variant in WDR72 is likely pathogenic.

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

Last Updated: Jun 23, 2024