NM_001372076.1(PAX9):c.191del (p.Gly64fs) AND Tooth agenesis, selective, 3

Germline classification:: Likely 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:: RCV003324108.3

Allele description [Variation Report for NM_001372076.1(PAX9):c.191del (p.Gly64fs)]

NM_001372076.1(PAX9):c.191del (p.Gly64fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

14q13.3

Genomic location:

Preferred name:

NM_001372076.1(PAX9):c.191del (p.Gly64fs)

HGVS:

NC_000014.9:g.36663083del
NG_013357.1:g.10516del
NG_128921.1:g.344del
NM_001372076.1:c.191delMANE SELECT
NM_006194.4:c.191del
NP_001359005.1:p.Gly64fs
NP_006185.1:p.Gly64fs
NC_000014.8:g.37132288del
NM_006194.4:c.189delG

Protein change:

G64fs

Molecular consequence:

NM_001372076.1:c.191del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006194.4:c.191del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004028557	Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine	no assertion criteria provided	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004028557

Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine

no assertion criteria provided

Likely pathogenic

germline

clinical testing

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Yu K, Dou J, Huang W, Wang F, Wu Y.

Clin Genet. 2022 Dec;102(6):503-516. doi: 10.1111/cge.14225. Epub 2022 Sep 17.

PubMed [citation]

PMID:: 36071541

Details of each submission

From Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, SCV004028557.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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