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NM_000228.3(LAMB3):c.3305del (p.Gly1102fs) AND Amelogenesis imperfecta type 1A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 1, 2023
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:
RCV003224081.2

Allele description [Variation Report for NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)]

NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)

Gene:
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)
HGVS:
  • NC_000001.11:g.209616550del
  • NG_007116.1:g.40928del
  • NM_000228.3:c.3305delMANE SELECT
  • NM_001017402.2:c.3305del
  • NM_001127641.1:c.3305del
  • NP_000219.2:p.Gly1102fs
  • NP_001017402.1:p.Gly1102fs
  • NP_001121113.1:p.Gly1102fs
  • NC_000001.10:g.209789895del
Protein change:
G1102fs
Molecular consequence:
  • NM_000228.3:c.3305del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001017402.2:c.3305del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127641.1:c.3305del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Amelogenesis imperfecta type 1A
Synonyms:
Amelogenesis imperfecta local hypoplastic; Amelogenesis imperfecta, hypoplastic type; Amelogenesis imperfecta, type IA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007094; MedGen: C4011403; Orphanet: 88661; OMIM: 104530

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842318Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 1, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg, SCV003842318.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024