NM_001372076.1(PAX9):c.243del (p.Thr82fs) 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:: RCV001374731.2

Allele description [Variation Report for NM_001372076.1(PAX9):c.243del (p.Thr82fs)]

NM_001372076.1(PAX9):c.243del (p.Thr82fs)

Gene:

PAX9:paired box 9 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q13.3

Genomic location:

Preferred name:

NM_001372076.1(PAX9):c.243del (p.Thr82fs)

HGVS:

NC_000014.9:g.36663135del
NG_013357.1:g.10568del
NM_001372076.1:c.243delMANE SELECT
NM_006194.4:c.243del
NP_001359005.1:p.Thr82fs
NP_006185.1:p.Thr82fs
NC_000014.8:g.37132340del
NM_006194.4:c.239delC

Protein change:

T82fs

Links:

dbSNP: rs2139108140

NCBI 1000 Genomes Browser:

rs2139108140

Molecular consequence:

NM_001372076.1:c.243del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006194.4:c.243del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001571257	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

SCV001571257

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

Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.

Yu M, Wong SW, Han D, Cai T.

Oral Dis. 2019 Apr;25(3):646-651. doi: 10.1111/odi.12931. Epub 2018 Jul 23. Review.

PubMed [citation]

PMID:: 29969831
PMCID:: PMC6318069

Details of each submission

From Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University and Hebei Key Laboratory of Stomatology, SCV001571257.1

#	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.239delC:p.T80fs in PAX9 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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