NM_001372076.1(PAX9):c.152G>T (p.Gly51Val) 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:: RCV001449584.1

Allele description [Variation Report for NM_001372076.1(PAX9):c.152G>T (p.Gly51Val)]

NM_001372076.1(PAX9):c.152G>T (p.Gly51Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q13.3

Genomic location:

Preferred name:

NM_001372076.1(PAX9):c.152G>T (p.Gly51Val)

HGVS:

NC_000014.9:g.36663044G>T
NG_013357.1:g.10477G>T
NM_001372076.1:c.152G>TMANE SELECT
NM_006194.4:c.152G>T
NP_001359005.1:p.Gly51Val
NP_006185.1:p.Gly51Val
NC_000014.8:g.37132249G>T

Protein change:

G51V

Links:

dbSNP: rs2139107997

NCBI 1000 Genomes Browser:

rs2139107997

Molecular consequence:

NM_001372076.1:c.152G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006194.4:c.152G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001571248	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

SCV001571248

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	1	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, SCV001571248.1

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

Description

We detected the variant c.G152T:p.G51V in PAX9 in a Chinese patient with nonsyndromic oligodontia and predicted its pathogenicity. SIFT, Polyphen2 and FATHMM predictions for the mutation were "deleterious" (0.00), "probably damaging" (1), and "Deleterious" (-6.61), respectively, 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		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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