NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val) AND Amelogenesis imperfecta, hypocalcification type

Germline classification:: Uncertain significance (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:: RCV003154859.2

Allele description [Variation Report for NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val)]

NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val)

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.1498C>G (p.Leu500Val)

HGVS:

NC_000008.11:g.143727963G>C
NG_016652.1:g.10782C>G
NG_016652.2:g.10816C>G
NM_198488.5:c.1498C>GMANE SELECT
NP_940890.4:p.Leu500Val
NC_000008.10:g.144810133G>C

Protein change:

L500V

Molecular consequence:

NM_198488.5:c.1498C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV003843872	Reference 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)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003843872

Reference 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)

inherited

clinical testing

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	inherited	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV003843872.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jun 23, 2024

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