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NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu) AND PAX9-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 15, 2024
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:
RCV003934833.2

Allele description [Variation Report for NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu)]

NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu)

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.271A>G (p.Lys91Glu)
HGVS:
  • NC_000014.9:g.36663163A>G
  • NG_013357.1:g.10596A>G
  • NM_001372076.1:c.271A>GMANE SELECT
  • NM_006194.4:c.271A>G
  • NP_001359005.1:p.Lys91Glu
  • NP_006185.1:p.Lys91Glu
  • NP_006185.1:p.Lys91Glu
  • NC_000014.8:g.37132368A>G
  • NM_006194.3:c.271A>G
Protein change:
K91E; LYS91GLU
Links:
OMIM: 167416.0004; dbSNP: rs28933373
NCBI 1000 Genomes Browser:
rs28933373
Molecular consequence:
  • NM_001372076.1:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006194.4:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PAX9-related disorder
Synonyms:
PAX9-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004753080PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Feb 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004753080.2

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

Description

The PAX9 c.271A>G variant is predicted to result in the amino acid substitution p.Lys91Glu. This variant was reported in individuals from one family segregate with hypodontia involving primarily molar teeth (Das et al. 2003. PubMed ID: 12605438). In vitro luciferase reporter assay showed reduction in DNA-binding and decrease in transactivation (Wang et al. 2009. PubMed ID: 19429910). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 8, 2024