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NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter) AND Tooth agenesis, selective, 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2001
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:
RCV000014778.27

Allele description [Variation Report for NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter)]

NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter)

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.340A>T (p.Lys114Ter)
HGVS:
  • NC_000014.9:g.36663232A>T
  • NG_013357.1:g.10665A>T
  • NM_001372076.1:c.340A>TMANE SELECT
  • NM_006194.4:c.340A>T
  • NP_001359005.1:p.Lys114Ter
  • NP_006185.1:p.Lys114Ter
  • NC_000014.8:g.37132437A>T
Protein change:
K114*; LYS114TER
Links:
OMIM: 167416.0002; dbSNP: rs104894467
NCBI 1000 Genomes Browser:
rs104894467
Molecular consequence:
  • NM_001372076.1:c.340A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006194.4:c.340A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000035033OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2001) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.

Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S.

Eur J Hum Genet. 2001 Oct;9(10):743-6.

PubMed [citation]
PMID:
11781684

Details of each submission

From OMIM, SCV000035033.3

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

Description

Nieminen et al. (2001) identified an A-to-T transversion at nucleotide 340 in exon 2 of the PAX9 gene in 3 affected members of a Finnish family with autosomal dominant oligodontia (STHAG3; 604625). The mutation created a stop codon at lys114 and truncated the protein at the end of the DNA-binding paired box. The affected individuals lacked all second and third permanent molars as well as both maxillary lateral incisors. The proband and his mother also lacked all first permanent molars and several second premolars. In the primary dentition of the proband, all second molars were missing. In addition, some permanent teeth appeared smaller than normal in affected individuals. The authors suggested haploinsufficiency as a likely effect of the mutation.

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

Last Updated: Apr 23, 2022