NM_014023.4(WDR37):c.406A>T (p.Ser136Cys) AND Neurooculocardiogenitourinary syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 2, 2021
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:: RCV001775174.2

Allele description [Variation Report for NM_014023.4(WDR37):c.406A>T (p.Ser136Cys)]

NM_014023.4(WDR37):c.406A>T (p.Ser136Cys)

Gene:

WDR37:WD repeat domain 37 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p15.3

Genomic location:

Preferred name:

NM_014023.4(WDR37):c.406A>T (p.Ser136Cys)

HGVS:

NC_000010.11:g.1084412A>T
NM_014023.4:c.406A>TMANE SELECT
NP_054742.2:p.Ser136Cys
NC_000010.10:g.1130352A>T

Protein change:

S136C

Links:

dbSNP: rs2131630556

NCBI 1000 Genomes Browser:

rs2131630556

Molecular consequence:

NM_014023.4:c.406A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Neurooculocardiogenitourinary syndrome
Identifiers:: MONDO: MONDO:0032850; MedGen: C5231443; OMIM: 618652

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002012259	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 2, 2021)	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

SCV002012259

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 2, 2021)

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
not provided	germline	yes	1	not provided	not provided	1	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 3billion, SCV002012259.1

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

Description

The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.626, 3Cnet: 0.902, PP3). Patient's phenotype is considered compatible with Neurooculocardiogenitourinary syndrome (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Oct 20, 2024

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