NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del) AND X-linked cerebral-cerebellar-coloboma syndrome syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 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:: RCV000679877.2

Allele description [Variation Report for NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del)]

NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del)

Genes:

LOC126863256:BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 [Gene]
WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del)

HGVS:

NC_000023.11:g.49077715CCA[1]
NG_033004.2:g.28451TGG[1]
NM_001029896.2:c.158TGG[1]MANE SELECT
NM_007075.4:c.158TGG[1]
NP_001025067.1:p.Val54del
NP_009006.2:p.Val54del
NC_000023.10:g.48935374CCA[1]
NM_007075.3:c.161_163delTGG

Protein change:

V54del

Links:

dbSNP: rs864309661

NCBI 1000 Genomes Browser:

rs864309661

Molecular consequence:

NM_001029896.2:c.158TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007075.4:c.158TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: X-linked cerebral-cerebellar-coloboma syndrome syndrome
Synonyms:: Cerebral-cerebellar-coloboma syndrome, X-linked
Identifiers:: MONDO: MONDO:0010464; MedGen: C3275487; Orphanet: 163961; OMIM: 300864

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807259	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 1, 2017)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 25326635

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807259

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 1, 2017)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	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

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]

PMID:: 25326635
PMCID:: PMC4326249

Details of each submission

From Baylor Genetics, SCV000807259.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (2)

Description

This variant was found once in our laboratory de novo in a 2-year-old male with global delays, dystonia, ataxia, structural brain abnormalities, seizures, sialorrhea, retractible testes.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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