NM_001177676.2(GPR68):c.667_668del (p.Lys223fs) AND Amelogenesis imperfecta

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2016
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:: RCV000495945.1

Allele description [Variation Report for NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)]

NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

14q32.11

Genomic location:

Preferred name:

NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)

HGVS:

NC_000014.9:g.91234383_91234384del
NG_052988.1:g.24497_24498del
NM_001177676.2:c.667_668delMANE SELECT
NM_001348437.1:c.667_668del
NM_003485.3:c.667_668del
NP_001171147.1:p.Lys223fs
NP_001335366.1:p.Lys223fs
NP_003476.3:p.Lys223fs
NC_000014.8:g.91700727_91700728del
NM_001177676.1:c.667_668delAA

Protein change:

K223fs

Links:

OMIM: 601404.0002; dbSNP: rs1057517671

NCBI 1000 Genomes Browser:

rs1057517671

Molecular consequence:

NM_001177676.2:c.667_668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348437.1:c.667_668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003485.3:c.667_668del - 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
SCV000298219	Leeds Amelogenesis Imperfecta Research Group, University of Leeds	no assertion criteria provided	Pathogenic (Aug 1, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298219

Leeds Amelogenesis Imperfecta Research Group, University of Leeds

no assertion criteria provided

Pathogenic
(Aug 1, 2016)

germline

research

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
Pakistani	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ.

Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29.

PubMed [citation]

PMID:: 27693231
PMCID:: PMC5065684

Details of each submission

From Leeds Amelogenesis Imperfecta Research Group, University of Leeds, SCV000298219.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Pakistani	not provided	not provided	not provided	research	PubMed (1)

Description

Predicted to remove two of the protein's transmembrane helices and two pH sensing histidine residues.

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

Last Updated: Apr 23, 2022

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