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NM_000165.5(GJA1):c.286G>A (p.Val96Met) AND Oculodentodigital dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2004
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:
RCV000018509.30

Allele description [Variation Report for NM_000165.5(GJA1):c.286G>A (p.Val96Met)]

NM_000165.5(GJA1):c.286G>A (p.Val96Met)

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.286G>A (p.Val96Met)
HGVS:
  • NC_000006.12:g.121447133G>A
  • NG_008308.1:g.16535G>A
  • NM_000165.5:c.286G>AMANE SELECT
  • NP_000156.1:p.Val96Met
  • LRG_1289t1:c.286G>A
  • LRG_1289:g.16535G>A
  • LRG_1289p1:p.Val96Met
  • NC_000006.11:g.121768279G>A
  • P17302:p.Val96Met
Protein change:
V96M; VAL96MET
Links:
UniProtKB: P17302#VAR_059001; OMIM: 121014.0009; dbSNP: rs28931601
NCBI 1000 Genomes Browser:
rs28931601
Molecular consequence:
  • NM_000165.5:c.286G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038791OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.

Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N.

Am J Med Genet A. 2004 Jun 1;127A(2):152-7.

PubMed [citation]
PMID:
15108203

Details of each submission

From OMIM, SCV000038791.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a 5-generation Danish family with oculodentodigital dysplasia (ODDD; 164200), Kjaer et al. (2004) identified a 286G-A transition in exon 2 of the GJA1 gene, resulting in a val96-to-met (V96M) substitution. The mutation created a new cleavage site for the restriction enzyme Nde1.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022