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NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp) AND Tooth agenesis, selective, 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 20, 2017
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:
RCV000144943.2

Allele description [Variation Report for NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp)]

NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp)

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.336C>G (p.Cys112Trp)
HGVS:
  • NC_000014.9:g.36663228C>G
  • NG_013357.1:g.10661C>G
  • NM_001372076.1:c.336C>GMANE SELECT
  • NM_006194.4:c.336C>G
  • NP_001359005.1:p.Cys112Trp
  • NP_006185.1:p.Cys112Trp
  • NP_006185.1:p.Cys112Trp
  • NC_000014.8:g.37132433C>G
  • NM_006194.3:c.336C>G
Protein change:
C112W
Links:
dbSNP: rs587776350
NCBI 1000 Genomes Browser:
rs587776350
Molecular consequence:
  • NM_001372076.1:c.336C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006194.4:c.336C>G - 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
SCV000189127Centre for Genetic Disorders, Banaras Hindu University
no assertion criteria provided
Pathogenic
(Mar 20, 2017) 		germlinenot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providednot provided

Details of each submission

From Centre for Genetic Disorders, Banaras Hindu University, SCV000189127.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

The Cys112Trp variant in PAX9 has been reported in 1 Indian families with autosomal dominant Congenital tooth agenesis (OMIM ID #604625). This variation has been identified in all the affected individuals but absent in unaffected family members and 200 control chromosomes. This variation was also not reported in NCBI-dbSNP, ClinVar and The 1000 Genome databases. Additionally, in vitro functional studies indicate that the Cys276Trp variant disrupts DNA binding activity of mutant PAX9 protein. It also disrupts the protein-protein interaction with MSX1. In summary, the Cys237Trp variant is proposed to be classified as pathogenic based upon the segregation pattern association with disease phenotype and functional assay.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022