NM_021954.4(GJA3):c.950dup (p.His318fs) AND Cataract 14 multiple types

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 21, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004593626.1

Allele description [Variation Report for NM_021954.4(GJA3):c.950dup (p.His318fs)]

NM_021954.4(GJA3):c.950dup (p.His318fs)

Gene:

GJA3:gap junction protein alpha 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_021954.4(GJA3):c.950dup (p.His318fs)

HGVS:

NC_000013.11:g.20142340dup
NG_016399.1:g.23706dup
NM_021954.4:c.950dupMANE SELECT
NP_068773.2:p.His318fs
NC_000013.10:g.20716479dup

Protein change:

H318fs

Molecular consequence:

NM_021954.4:c.950dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cataract 14 multiple types
Synonyms:: Zonular pulverulent cataract 3; CATARACT 14, ZONULAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011162; MedGen: C1866078; Orphanet: 91492; OMIM: 601885

Recent activity

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SAMN41283522 (1)
SRA
Homo sapiens dexamethasone-induced transcript, mRNA (cDNA clone MGC:60202 IMAGE:...
Homo sapiens dexamethasone-induced transcript, mRNA (cDNA clone MGC:60202 IMAGE:6194689), complete cds
gi|31418638|gb|BC052989.1|

Nucleotide
Uncultured gamma proteobacterium isolate DGGE band SM00-20D-472N 16S ribosomal R...
Uncultured gamma proteobacterium isolate DGGE band SM00-20D-472N 16S ribosomal RNA gene, partial sequence
gi|39547406|gb|AY463855.1|

Nucleotide
LOC129992870 [Homo sapiens]
LOC129992870 [Homo sapiens]
Gene ID:129992870

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005081821	Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 21, 2023)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 29461512, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005081821

Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 21, 2023)

germline

curation

PubMed (2)
[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	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Micheal S, Niewold ITG, Siddiqui SN, Zafar SN, Khan MI, Bergen AAB.

Genes (Basel). 2018 Feb 20;9(2). doi:pii: E112. 10.3390/genes9020112.

PubMed [citation]

PMID:: 29461512
PMCID:: PMC5852608

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania, SCV005081821.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

Variant identified and curated during a GJA3 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PVS1(Strong), PM2(Supporting), PP1. Original variant report: PMID:29461512. The cataract phenotype reported for this variant is: Nuclear. Additional phenotype/s reported in these individual/s are: secondary glaucoma. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320

#	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: Jul 29, 2024

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