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NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) 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:
RCV000018507.25

Allele description [Variation Report for NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)]

NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)
HGVS:
  • NC_000006.12:g.121447001_121447003dup
  • NG_008308.1:g.16403_16405dup
  • NM_000165.5:c.154_156dupMANE SELECT
  • NP_000156.1:p.Phe52dup
  • LRG_1289t1:c.154_156dup
  • LRG_1289:g.16403_16405dup
  • LRG_1289p1:p.Phe52dup
  • NC_000006.11:g.121768147_121768149dup
  • NM_000165.4:c.154_156dupTTT
Note:
ClinGen staff contributed the HGVS expression for this variant.
Links:
OMIM: 121014.0007; dbSNP: rs1582558097
NCBI 1000 Genomes Browser:
rs1582558097
Molecular consequence:
  • NM_000165.5:c.154_156dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000038789OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2003) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Oculodentodigital dysplasia. Picture of the month.

Gellis SS, Feingold M.

Am J Dis Child. 1974 Jul;128(1):81-2. No abstract available.

PubMed [citation]
PMID:
4209752

A family with oculodentodigital dysplasia.

Weintraub DM, Baum JL, Pashayan HM.

Cleft Palate J. 1975 Jul;12:323-9.

PubMed [citation]
PMID:
1057461
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000038789.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In a familial case of oculodentodigital dysplasia (ODDD; 164200) reported by Gellis and Feingold (1974) and Weintraub et al. (1975), Paznekas et al. (2003) found duplication of codon 52 (phe) of the GJA1 gene. Nucleotides 154-156 (TTT) were duplicated.

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

Last Updated: Apr 23, 2022