NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs) AND Amelogenesis imperfecta

Germline classification:: Pathogenic (1 submission)
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:: RCV002250378.1

Allele description [Variation Report for NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)]

NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)

Gene:

GPR68:G protein-coupled receptor 68 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

14q32.11

Genomic location:

Preferred name:

NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)

HGVS:

NC_000014.9:g.91234968_91234973delinsG
NG_052988.1:g.23908_23913delinsC
NM_001177676.2:c.78_83delinsCMANE SELECT
NM_001348437.1:c.78_83delinsC
NM_003485.3:c.78_83delinsC
NP_001171147.1:p.Val27fs
NP_001335366.1:p.Val27fs
NP_003476.3:p.Val27fs
NC_000014.8:g.91701312_91701317delinsG

Protein change:

V27fs

Links:

dbSNP: rs2140845247

NCBI 1000 Genomes Browser:

rs2140845247

Molecular consequence:

NM_001177676.2:c.78_83delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348437.1:c.78_83delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003485.3:c.78_83delinsC - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002028294	Dental Genetics Laboratory, Seoul National University School of Dentistry	no assertion criteria provided	Pathogenic	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002028294

Dental Genetics Laboratory, Seoul National University School of Dentistry

no assertion criteria provided

Pathogenic

biparental

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	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, SCV002028294.1

#	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	biparental	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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