NM_001372076.1(PAX9):c.350T>G (p.Val117Gly) AND Tooth agenesis, selective, 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 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:: RCV001829279.1

Allele description [Variation Report for NM_001372076.1(PAX9):c.350T>G (p.Val117Gly)]

NM_001372076.1(PAX9):c.350T>G (p.Val117Gly)

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.350T>G (p.Val117Gly)

HGVS:

NC_000014.9:g.36663242T>G
NG_013357.1:g.10675T>G
NM_001372076.1:c.350T>GMANE SELECT
NM_006194.4:c.350T>G
NP_001359005.1:p.Val117Gly
NP_006185.1:p.Val117Gly
NC_000014.8:g.37132447T>G

Protein change:

V117G

Links:

dbSNP: rs2139108314

NCBI 1000 Genomes Browser:

rs2139108314

Molecular consequence:

NM_001372076.1:c.350T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006194.4:c.350T>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002074134	Department of Prosthodontics, Peking University School and Hospital of Stomatology	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 10, 2022)	paternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002074134

Department of Prosthodontics, Peking University School and Hospital of Stomatology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 10, 2022)

paternal

research

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	paternal	yes	1	not provided	not provided	not provided	not provided	research

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, SCV002074134.1

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

Description

The affected patient's teeth are overall small in size with abnormal facial proportion and a concave type face. Clinical features observed in this individual

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

Last Updated: Dec 24, 2023

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