NM_025132.4(WDR19):c.98+5G>T AND Cranioectodermal dysplasia 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 21, 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:: RCV003234978.1

Allele description [Variation Report for NM_025132.4(WDR19):c.98+5G>T]

NM_025132.4(WDR19):c.98+5G>T

Gene:

WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p14

Genomic location:

Preferred name:

NM_025132.4(WDR19):c.98+5G>T

HGVS:

NC_000004.12:g.39185822G>T
NG_031813.1:g.8419G>T
NM_001317924.2:c.-267+5G>T
NM_025132.4:c.98+5G>TMANE SELECT
NC_000004.11:g.39187442G>T

Molecular consequence:

NM_001317924.2:c.-267+5G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_025132.4:c.98+5G>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Cranioectodermal dysplasia 4 (CED4)
Identifiers:: MONDO: MONDO:0013719; MedGen: C3280616; Orphanet: 1515; OMIM: 614378

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003932870	Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 21, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003932870

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 21, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South East Asian	germline	yes	1	not provided	not provided	not provided	not provided	clinical 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 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, SCV003932870.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South East Asian	1	not provided	not provided	clinical testing	PubMed (1)

Description

The novel heterozygous c.98+5G>T variant was identified in a proband with short stature, narrow thorax, B/L rhizomelic shortening, joint laxity.This variant has not been found in gnomAD aggregate or ExAc. This variant has been identified in compound heterozygous state with c.2887C>T (p.Gln963*) variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jul 1, 2023

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