NM_000228.2(LAMB3):c.3446_3453delGACTGGAG (p.Gly1149Glufs) AND Amelogenesis imperfecta, type IA

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2013
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:
RCV000157635.3

Allele description

NM_000228.2(LAMB3):c.3446_3453delGACTGGAG (p.Gly1149Glufs)

Gene:
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.2(LAMB3):c.3446_3453delGACTGGAG (p.Gly1149Glufs)
HGVS:
  • NC_000001.11:g.209615337_209615344delCTCCAGTC
  • NG_007116.1:g.42132_42139delGACTGGAG
  • NM_000228.2:c.3446_3453delGACTGGAG
  • NP_000219.2:p.Gly1149Glufs
  • NC_000001.10:g.209788682_209788689delCTCCAGTC
Links:
OMIM: 150310.0017; dbSNP: rs869320747
NCBI 1000 Genomes Browser:
rs869320747
Molecular consequence:
  • NM_000228.2:c.3446_3453delGACTGGAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Amelogenesis imperfecta, type IA (AI1A)
Synonyms:
Amelogenesis imperfecta, hypoplastic type; AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
Identifiers:
MedGen: C0399367; Orphanet: 88661; OMIM: 104530

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207442OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2013) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC.

J Dent Res. 2013 Oct;92(10):899-904. doi: 10.1177/0022034513502054. Epub 2013 Aug 19.

PubMed [citation]
PMID:
23958762
PMCID:
PMC3775375

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families.

Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC.

Eur J Oral Sci. 2006 May;114 Suppl 1:3-12; discussion 39-41, 379.

PubMed [citation]
PMID:
16674655

Details of each submission

From OMIM, SCV000207442.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

By whole-exome sequencing in a family (Family 1) with hypoplastic amelogenesis imperfecta (AI1A; 104530), Kim et al. (2013) identified a heterozygous 8-bp deletion (NM_000228.2, c.3446_3453delGACTGGAG) in the last exon of the LAMB3 gene, which was predicted to result in a frameshift and premature termination (Gly1149GlufsTer8). The 6.5-year-old proposita had thin, grooved, and pitted enamel in both her primary and secondary dentition. Her mother, whose dentition was within normal limits, reported that the girl's father had dentition similar to that in the proposita, but he was not available for study. The mutation was not found in the 1000 Genomes Project database. This family had previously been reported as family AI-23 by Kim et al. (2006).

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

Last Updated: Jul 21, 2018