NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys) AND WLS syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 21, 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:: RCV001420501.1

Allele description [Variation Report for NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys)]

NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys)

Genes:

GNG12-AS1:GNG12, DIRAS3 and WLS antisense RNA 1 [Gene - OMIM - HGNC]
WLS:Wnt ligand secretion mediator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

Preferred name:

NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys)

HGVS:

NC_000001.11:g.68145972T>C
NM_001002292.4:c.1169A>G
NM_001193334.1:c.902A>G
NM_024911.7:c.1175A>GMANE SELECT
NP_001002292.3:p.Tyr390Cys
NP_001180263.1:p.Tyr301Cys
NP_079187.3:p.Tyr392Cys
NC_000001.10:g.68611655T>C

Protein change:

Y301C; TYR392CYS

Links:

OMIM: 611514.0001; dbSNP: rs2100452147

NCBI 1000 Genomes Browser:

rs2100452147

Molecular consequence:

NM_001002292.4:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001193334.1:c.902A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024911.7:c.1175A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: WLS syndrome
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001622779	Gleeson Lab, University of California San Diego - Department of Neuroscience	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 21, 2021)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001622779

Gleeson Lab, University of California San Diego - Department of Neuroscience

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 21, 2021)

inherited

research

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	inherited	yes	5	1	not provided	not provided	yes	research

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 Gleeson Lab, University of California San Diego - Department of Neuroscience, SCV001622779.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	yes	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		5	not provided	1	not provided

Last Updated: Dec 24, 2023

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