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NM_017565.4(FAM20A):c.1301+5G>A AND Amelogenesis imperfecta type 1G

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:
RCV003155533.9

Allele description [Variation Report for NM_017565.4(FAM20A):c.1301+5G>A]

NM_017565.4(FAM20A):c.1301+5G>A

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.1301+5G>A
HGVS:
  • NC_000017.11:g.68539880C>T
  • NG_007093.3:g.131258C>T
  • NG_029809.1:g.66075G>A
  • NM_001243746.2:c.887+5G>A
  • NM_001276290.1:c.973+9879C>T
  • NM_017565.4:c.1301+5G>AMANE SELECT
  • LRG_514:g.131258C>T
  • NC_000017.10:g.66536021C>T
Molecular consequence:
  • NM_001243746.2:c.887+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276290.1:c.973+9879C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017565.4:c.1301+5G>A - intron variant - [Sequence Ontology: SO:0001627]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003843886Reference 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) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot 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, SCV003843886.1

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

Last Updated: Nov 10, 2024