NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter) AND Oligodontia

Germline classification:: Pathogenic (1 submission)
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:: RCV001374733.2

Allele description [Variation Report for NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter)]

NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter)

Gene:

MSX1:msh homeobox 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter)

HGVS:

NC_000004.12:g.4862807_4862808insTAG
NG_008121.1:g.8143_8144insTAG
NM_002448.3:c.576_577insTAGMANE SELECT
NP_002439.2:p.Gln193Ter
LRG_1342t1:c.576_577insTAG
LRG_1342:g.8143_8144insTAG
LRG_1342p1:p.Gln193Ter
NC_000004.11:g.4864534_4864535insTAG

Protein change:

Q193*

Links:

dbSNP: rs2108778623

NCBI 1000 Genomes Browser:

rs2108778623

Molecular consequence:

NM_002448.3:c.576_577insTAG - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Oligodontia
Identifiers:: MedGen: C4082304; Human Phenotype Ontology: HP:0000677

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001571259	Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University and Hebei Key Laboratory of Stomatology	no assertion criteria provided	Pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001571259

Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University and Hebei Key Laboratory of Stomatology

no assertion criteria provided

Pathogenic

de novo

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
Chinese	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.

Wong SW, Liu HC, Han D, Chang HG, Zhao HS, Wang YX, Feng HL.

Mutagenesis. 2014 Sep;29(5):319-23. doi: 10.1093/mutage/geu019. Epub 2014 Jun 9.

PubMed [citation]

PMID:: 24914010

Details of each submission

From Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University and Hebei Key Laboratory of Stomatology, SCV001571259.1

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

Description

We detected the variant c.576_577insTAG:p.R192delinsRX in MSX1 in a Chinese patient with nonsyndromic oligodontia and predicted its pathogenicity. MutationTaster prediction for the mutation was "disease causing", suggesting the variant was highly pathogenic.

#	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		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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