NM_000165.5(GJA1):c.61G>A (p.Gly21Arg) AND Oculodentodigital dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2003
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:: RCV000018505.30

Allele description [Variation Report for NM_000165.5(GJA1):c.61G>A (p.Gly21Arg)]

NM_000165.5(GJA1):c.61G>A (p.Gly21Arg)

Gene:

GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.31

Genomic location:

Preferred name:

NM_000165.5(GJA1):c.61G>A (p.Gly21Arg)

HGVS:

NC_000006.12:g.121446908G>A
NG_008308.1:g.16310G>A
NM_000165.5:c.61G>AMANE SELECT
NP_000156.1:p.Gly21Arg
LRG_1289t1:c.61G>A
LRG_1289:g.16310G>A
LRG_1289p1:p.Gly21Arg
NC_000006.11:g.121768054G>A
P17302:p.Gly21Arg

Protein change:

G21R; GLY21ARG

Links:

UniProtKB: P17302#VAR_015749; OMIM: 121014.0005; dbSNP: rs104893963

NCBI 1000 Genomes Browser:

rs104893963

Molecular consequence:

NM_000165.5:c.61G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oculodentodigital dysplasia (ODDD)
Synonyms:: ODD syndrome; Oculodentodigital syndrome
Identifiers:: MONDO: MONDO:0008111; MedGen: C0812437; Orphanet: 2710; OMIM: 164200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038787	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038787

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2003)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW.

Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27.

PubMed [citation]

PMID:: 12457340
PMCID:: PMC379233

Details of each submission

From OMIM, SCV000038787.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a sporadic case of oculodentodigital dysplasia (ODDD; 164200) with involvement of only the fourth and fifth fingers (syndactyly type III; see 186100), Paznekas et al. (2003) identified a 61G-A transition in the GJA1 gene, predicted to result in a gly21-to-arg (G21R) substitution in the first transmembrane domain.

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

Last Updated: Apr 23, 2022

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