NM_025132.4(WDR19):c.781dup (p.Thr261fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Aug 8, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001231474.2

Allele description [Variation Report for NM_025132.4(WDR19):c.781dup (p.Thr261fs)]

NM_025132.4(WDR19):c.781dup (p.Thr261fs)

Gene:
WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
HGVS:
  • NC_000004.11:g.39207246_39207247insA
  • NC_000004.12:g.39205627dup
  • NG_031813.1:g.28224dup
  • NM_001317924.2:c.301dup
  • NM_025132.4:c.781dupMANE SELECT
  • NP_001304853.1:p.Thr101fs
  • NP_079408.3:p.Thr261fs
  • NC_000004.11:g.39207246_39207247insA
  • NC_000004.11:g.39207247dup
  • NC_000004.11:g.39207247dupA
  • NM_025132.3:c.781dup
  • NM_025132.3:c.781dupA
Protein change:
T101fs
Links:
dbSNP: rs748656635
NCBI 1000 Genomes Browser:
rs748656635
Molecular consequence:
  • NM_001317924.2:c.301dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_025132.4:c.781dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Asphyxiating thoracic dystrophy 5 (SRTD5)
Synonyms:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
Identifiers:
MONDO: MONDO:0013717; MedGen: C3280598; Orphanet: 474; OMIM: 614376
Name:
Senior-Loken syndrome 8 (SLSN8)
Identifiers:
MONDO: MONDO:0014579; MedGen: C4225376; Orphanet: 3156; OMIM: 616307

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001403998Invitaecriteria provided, single submitter
Pathogenic
(Aug 8, 2019)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, et al.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

PubMed [citation]
PMID:
28973083
PMCID:
PMC6359927

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, et al.

Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.

PubMed [citation]
PMID:
22019273
PMCID:
PMC3213394
See all PubMed Citations (8)

Details of each submission

From Invitae, SCV001403998.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This sequence change creates a premature translational stop signal (p.Thr261Asnfs*13) in the WDR19 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with asphyxiating thoracic dystrophy (PMID: 28973083, 29068549). ClinVar contains an entry for this variant (Variation ID: 446634). Loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 10, 2021

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