NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) AND Osteogenesis imperfecta type 15

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 10, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000723329.1

Allele description [Variation Report for NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly)]

NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly)

Gene:

WNT1:Wnt family member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly)

HGVS:

NC_000012.12:g.48981617C>G
NG_033141.1:g.8165C>G
NM_005430.4:c.1090C>GMANE SELECT
NP_005421.1:p.Arg364Gly
NC_000012.11:g.49375400C>G
NM_005430.3:c.1090C>G

Protein change:

R364G

Links:

dbSNP: rs1435433748

NCBI 1000 Genomes Browser:

rs1435433748

Molecular consequence:

NM_005430.4:c.1090C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Osteogenesis imperfecta type 15
Synonyms:: Osteogenesis imperfecta, type xv; OI, TYPE XV; WNT1-related osteogenesis imperfecta
Identifiers:: MONDO: MONDO:0014086; MedGen: C3808844; Orphanet: 666; OMIM: 615220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000854723	Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	no assertion criteria provided	Uncertain significance (Jul 10, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000854723

Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

no assertion criteria provided

Uncertain significance
(Jul 10, 2018)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV000854723.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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