NM_001372076.1(PAX9):c.191G>T (p.Gly64Val) AND Tooth agenesis, selective, 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002260957.1

Allele description [Variation Report for NM_001372076.1(PAX9):c.191G>T (p.Gly64Val)]

NM_001372076.1(PAX9):c.191G>T (p.Gly64Val)

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.191G>T (p.Gly64Val)

HGVS:

NC_000014.9:g.36663083G>T
NG_013357.1:g.10516G>T
NM_001372076.1:c.191G>TMANE SELECT
NM_006194.4:c.191G>T
NP_001359005.1:p.Gly64Val
NP_006185.1:p.Gly64Val
NC_000014.8:g.37132288G>T

Protein change:

G64V

Links:

dbSNP: rs2139108057

NCBI 1000 Genomes Browser:

rs2139108057

Molecular consequence:

NM_001372076.1:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006194.4:c.191G>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002540766	Department of Prosthodontics, Peking University School and Hospital of Stomatology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 16, 2022)	germline	provider interpretation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002540766

Department of Prosthodontics, Peking University School and Hospital of Stomatology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 16, 2022)

germline

provider interpretation

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	provider interpretation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Prosthodontics, Peking University School and Hospital of Stomatology, SCV002540766.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	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: Dec 24, 2023

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