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NM_014208.3(DSPP):c.3555del (p.Asp1185fs) AND Dentinogenesis imperfecta type 2

Germline classification:
Pathogenic (1 submission)
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:
RCV003328727.2

Allele description [Variation Report for NM_014208.3(DSPP):c.3555del (p.Asp1185fs)]

NM_014208.3(DSPP):c.3555del (p.Asp1185fs)

Gene:
DSPP:dentin sialophosphoprotein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_014208.3(DSPP):c.3555del (p.Asp1185fs)
HGVS:
  • NC_000004.12:g.87616217del
  • NG_011595.1:g.12689del
  • NM_014208.3:c.3555delMANE SELECT
  • NP_055023.2:p.Asp1185fs
  • LRG_1242t1:c.3555del
  • LRG_1242:g.12689del
  • LRG_1242p1:p.Asp1185fs
  • NC_000004.11:g.88537369del
  • NM_014208.3:c.3555delCMANE SELECT
Protein change:
D1185fs
Molecular consequence:
  • NM_014208.3:c.3555del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dentinogenesis imperfecta type 2 (DGI1)
Synonyms:
Opalescent dentin; Dentinogenesis imperfecta without osteogenesis imperfecta; Opalescent teeth without osteogenesis imperfecta; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007441; MedGen: C2973527; Orphanet: 166260; OMIM: 125490

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004035243Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

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 Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University, SCV004035243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.3555del frameshift variant in DSPP was found in 1 Thai family with autosomal dominant dentinogenesis imperfecta type II. This variant was segregated with the disease in 3 affected individuals. Song et al. (2008) has reported about 5 unrelated Chinese families with dentinogenesis imperfecta type II identified 5 different heterozygous frameshift mutations in the DSPP gene. In summary, the c.3555del is classified as pathogenic based on ACMG guideline.

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

Last Updated: Mar 30, 2024