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NM_001372076.1(PAX9):c.139C>T (p.Arg47Trp) AND Tooth agenesis, selective, 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2007
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:
RCV000014791.27

Allele description [Variation Report for NM_001372076.1(PAX9):c.139C>T (p.Arg47Trp)]

NM_001372076.1(PAX9):c.139C>T (p.Arg47Trp)

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.139C>T (p.Arg47Trp)
HGVS:
  • NC_000014.9:g.36663031C>T
  • NG_013357.1:g.10464C>T
  • NM_001372076.1:c.139C>TMANE SELECT
  • NM_006194.4:c.139C>T
  • NP_001359005.1:p.Arg47Trp
  • NP_006185.1:p.Arg47Trp
  • NC_000014.8:g.37132236C>T
Protein change:
R47W; ARG47TRP
Links:
OMIM: 167416.0015; dbSNP: rs121917720
NCBI 1000 Genomes Browser:
rs121917720
Molecular consequence:
  • NM_001372076.1:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006194.4:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tooth agenesis, selective, 3 (STHAG3)
Synonyms:
HYPODONTIA/OLIGODONTIA 3
Identifiers:
MONDO: MONDO:0011477; MedGen: C1970291; Orphanet: 99798; OMIM: 604625

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035046OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2007) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

[Novel mutations of PAX9 gene in Chinese patients with oligodontia].

Zhao JL, Chen YX, Bao L, Xia QJ, Wu TJ, Zhou L.

Zhonghua Kou Qiang Yi Xue Za Zhi. 2005 Jul;40(4):266-70. Chinese.

PubMed [citation]
PMID:
16191360

A novel missense mutation in the paired domain of human PAX9 causes oligodontia.

Zhao J, Hu Q, Chen Y, Luo S, Bao L, Xu Y.

Am J Med Genet A. 2007 Nov 1;143A(21):2592-7.

PubMed [citation]
PMID:
17910065

Details of each submission

From OMIM, SCV000035046.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected members of a Chinese family segregating autosomal dominant oligodontia (STHAG3; 604625), Zhao et al. (2005) identified heterozygosity for a 139C-T transition in exon 2 of the PAX9 gene, resulting in an arg47-to-trp (R47W) substitution in a conserved region of the N-terminal subdomain of the paired domain involved in DNA contact. Zhao et al. (2007) described a 16-year-old female proband who was missing 20 permanent teeth, including 9 molars, 4 maxillary premolars, 3 canines, and all central incisors. Some teeth showed abnormal crown and root shapes. In vitro functional expression studies indicated that the mutant protein had reduced DNA binding, suggesting haploinsufficiency.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022