NM_017565.4(FAM20A):c.928+2T>C AND Amelogenesis imperfecta type 1G

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:: RCV003155005.9

Allele description [Variation Report for NM_017565.4(FAM20A):c.928+2T>C]

NM_017565.4(FAM20A):c.928+2T>C

Genes:

FAM20A:FAM20A golgi associated secretory pathway pseudokinase [Gene - OMIM - HGNC]
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_017565.4(FAM20A):c.928+2T>C

HGVS:

NC_000017.11:g.68542692A>G
NG_007093.3:g.134070A>G
NG_029809.1:g.63263T>C
NM_001243746.2:c.514+2T>C
NM_001276290.1:c.974-8392A>G
NM_017565.4:c.928+2T>CMANE SELECT
LRG_514:g.134070A>G
NC_000017.10:g.66538833A>G

Molecular consequence:

NM_001276290.1:c.974-8392A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001243746.2:c.514+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_017565.4:c.928+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Amelogenesis imperfecta type 1G (AI1G)
Synonyms:: AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND NEPHROCALCINOSIS; Amelogenesis imperfecta and nephrocalcinosis; ENAMEL-RENAL-GINGIVAL SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008771; MedGen: C2931783; Orphanet: 1031; Orphanet: 171836; OMIM: 204690

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003843883	Reference 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)	maternal	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

SCV003843883

Reference 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)

maternal

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	maternal	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, SCV003843883.1

#	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	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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