NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter) AND Amelogenesis imperfecta, hypocalcification type

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2009
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:: RCV000000813.4

Allele description

NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter)

Gene:

FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter)

HGVS:

NC_000008.11:g.143728601G>T
NG_016652.1:g.10144C>A
NM_198488.5:c.860C>AMANE SELECT
NP_940890.4:p.Ser287Ter
NC_000008.10:g.144810771G>T

Protein change:

S287*; SER287TER

Links:

OMIM: 611927.0008; dbSNP: rs137854442

NCBI 1000 Genomes Browser:

rs137854442

Molecular consequence:

NM_198488.5:c.860C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Amelogenesis imperfecta, hypocalcification type
Synonyms:: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT; AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE; hypocalcified amelogenesis imperfecta
Identifiers:: MONDO: MONDO:0968955; MedGen: C0399376; Orphanet: 88661

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020963	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020963

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2009)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Phenotypic variation in FAM83H-associated amelogenesis imperfecta.

Wright JT, Frazier-Bowers S, Simmons D, Alexander K, Crawford P, Han ST, Hart PS, Hart TC.

J Dent Res. 2009 Apr;88(4):356-60. doi: 10.1177/0022034509333822.

PubMed [citation]

PMID:: 19407157
PMCID:: PMC2754853

Details of each submission

From OMIM, SCV000020963.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a family with amelogenesis imperfecta type III (AI3A; 130900), Wright et al. (2009) identified an 860C-A transversion in the FAM83H gene, resulting in a ser287-to-ter (S287X) substitution.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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