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NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?) AND Tooth agenesis, selective, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2014
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:
RCV000157079.1

Allele description [Variation Report for NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?)]

NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?)

Gene:
MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?)
HGVS:
  • NC_000004.12:g.4863141_4863142dup
  • NG_008121.1:g.8477_8478dup
  • NM_002448.3:c.910_911dupMANE SELECT
  • NP_002439.2:p.Ter304TyrextTer?
  • LRG_1342t1:c.910_911dup
  • LRG_1342:g.8477_8478dup
  • LRG_1342p1:p.Ter304TyrextTer?
  • NC_000004.11:g.4864868_4864869dup
Links:
dbSNP: rs515726227
NCBI 1000 Genomes Browser:
rs515726227
Molecular consequence:
  • NM_002448.3:c.910_911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002448.3:c.910_911dup - stop lost - [Sequence Ontology: SO:0001578]
Functional consequence:
effect on protein subcellular localization [Variation Ontology: 0033]

Condition(s)

Name:
Tooth agenesis, selective, 1
Synonyms:
HYPODONTIA/OLIGODONTIA 1; SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF
Identifiers:
MONDO: MONDO:0007129; MedGen: C3489529; Orphanet: 99798; OMIM: 106600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000148071Department of Prosthodontics, Peking University School and Hospital of Stomatology - Etiological Studies of Tooth Agenesis
no assertion criteria provided
Pathogenic
(Jan 13, 2014) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Description

This is a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in the stop codon of MSX1 gene. In vitro study found that mutant MSX1 could be expressed but had lost its ability to enter the nucleus, whereas the wild-type MSX1 protein was located exclusively in the nucleus.

SCV000148071

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesegermlineyes2not providednot providednot providednot providedresearch

Citations

PubMed

A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE.

Nat Genet. 1996 Aug;13(4):417-21.

PubMed [citation]
PMID:
8696335

A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.

Wong SW, Liu HC, Han D, Chang HG, Zhao HS, Wang YX, Feng HL.

Mutagenesis. 2014 Sep;29(5):319-23. doi: 10.1093/mutage/geu019. Epub 2014 Jun 9.

PubMed [citation]
PMID:
24914010

Details of each submission

From Department of Prosthodontics, Peking University School and Hospital of Stomatology - Etiological Studies of Tooth Agenesis, SCV000148071.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese2not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 23, 2022