NM_033068.3(ACP4):c.350A>G (p.Gln117Arg) AND Amelogenesis imperfecta

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 3, 2021
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:: RCV001645018.1

Allele description [Variation Report for NM_033068.3(ACP4):c.350A>G (p.Gln117Arg)]

NM_033068.3(ACP4):c.350A>G (p.Gln117Arg)

Gene:

ACP4:acid phosphatase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_033068.3(ACP4):c.350A>G (p.Gln117Arg)

HGVS:

NC_000019.10:g.50791702A>G
NG_052652.1:g.6288A>G
NM_033068.3:c.350A>GMANE SELECT
NP_149059.1:p.Gln117Arg
NC_000019.9:g.51294959A>G
NM_033068.2:c.350A>G

Protein change:

Q117R

Links:

dbSNP: rs2123287930

NCBI 1000 Genomes Browser:

rs2123287930

Molecular consequence:

NM_033068.3:c.350A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Amelogenesis imperfecta (AI)
Synonyms:: Congenital enamel hypoplasia
Identifiers:: MONDO: MONDO:0019507; MedGen: C0002452; OMIM: PS104500; Human Phenotype Ontology: HP:0000705

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001519085	Dental Genetics Laboratory, Seoul National University School of Dentistry	no assertion criteria provided	Uncertain significance (Feb 3, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001519085

Dental Genetics Laboratory, Seoul National University School of Dentistry

no assertion criteria provided

Uncertain significance
(Feb 3, 2021)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Dental Genetics Laboratory, Seoul National University School of Dentistry, SCV001519085.1

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

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

Last Updated: May 7, 2024

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