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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Slc4a1 solute carrier family 4 (anion exchanger), member 1 [Mus musculus]
Slc4a1 solute carrier family 4 (anion exchanger), member 1 [Mus musculus]
Gene ID:20533

Gene
20533[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038789	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2003)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 4209752, 1057461, 12457340

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038789

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2003)

germline

literature only

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

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

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	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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