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NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) AND Amelogenesis imperfecta type 1F

Germline classification:
Uncertain significance (2 submissions)
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:
RCV003154240.10

Allele description [Variation Report for NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)]

NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)

Gene:
AMBN:ameloblastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.3
Genomic location:
Preferred name:
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)
HGVS:
  • NC_000004.12:g.70599561C>G
  • NG_042078.1:g.12304C>G
  • NM_016519.5:c.209C>G
  • NM_016519.6:c.209C>GMANE SELECT
  • NP_057603.1:p.Ser70Ter
  • NC_000004.11:g.71465278C>G
  • NM_016519.6:c.209C>G
Protein change:
S70*
Links:
dbSNP: rs146148316
NCBI 1000 Genomes Browser:
rs146148316
Molecular consequence:
  • NM_016519.6:c.209C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Amelogenesis imperfecta type 1F (AI1F)
Synonyms:
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF; Amelogenesis imperfecta, type IF
Identifiers:
MONDO: MONDO:0014560; MedGen: C4225394; Orphanet: 88661; OMIM: 616270

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842949Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 1, 2023) 		unknownclinical testing

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

SCV003923335Leeds Amelogenesis Imperfecta Research Group, University of Leeds
no assertion criteria provided
Pathogenic
(May 4, 2023) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedclinical testing, 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 Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg, SCV003842949.1

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

From Leeds Amelogenesis Imperfecta Research Group, University of Leeds, SCV003923335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024