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NM_020779.4(WDR35):c.171_178del (p.Ser59fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 9, 2023
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:
RCV003817878.2

Allele description [Variation Report for NM_020779.4(WDR35):c.171_178del (p.Ser59fs)]

NM_020779.4(WDR35):c.171_178del (p.Ser59fs)

Gene:
WDR35:WD repeat domain 35 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
HGVS:
  • NC_000002.12:g.19982499_19982506del
  • NG_021212.1:g.12618_12625del
  • NM_001006657.2:c.171_178del
  • NM_020779.4:c.171_178delMANE SELECT
  • NP_001006658.1:p.Ser59fs
  • NP_065830.2:p.Ser59fs
  • NC_000002.11:g.20182260_20182267del
Protein change:
S59fs
Molecular consequence:
  • NM_001006657.2:c.171_178del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020779.4:c.171_178del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cranioectodermal dysplasia 2 (CED2)
Identifiers:
MONDO: MONDO:0013323; MedGen: C3150874; Orphanet: 1515; OMIM: 613610
Name:
Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)
Synonyms:
Short rib polydactyly syndrome 5; SHORT-RIB THORACIC DYSPLASIA 7 WITH POLYDACTYLY
Identifiers:
MONDO: MONDO:0013569; MedGen: C3279792; Orphanet: 93271; OMIM: 614091

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004607333Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 9, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

Hoffer JL, Fryssira H, Konstantinidou AE, Ropers HH, Tzschach A.

Clin Genet. 2013 Jan;83(1):92-5. doi: 10.1111/j.1399-0004.2012.01880.x. Epub 2012 Apr 9. No abstract available.

PubMed [citation]
PMID:
22486404

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics., Lachman RS, Krakow D, Cohn DH.

Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.

PubMed [citation]
PMID:
29068549
PMCID:
PMC6198324
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004607333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Ser59Phefs*7) in the WDR35 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR35 are known to be pathogenic (PMID: 22486404, 29068549). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WDR35-related conditions. 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: Sep 29, 2024