NM_021954.4(GJA3):c.563A>G (p.Asn188Ser) AND Cataract 14 multiple types

Germline classification:: Uncertain significance (2 submissions)
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:: RCV001837018.2

Allele description [Variation Report for NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)]

NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)

HGVS:

NC_000013.11:g.20142726T>C
NG_016399.1:g.23319A>G
NM_021954.4:c.563A>GMANE SELECT
NP_068773.2:p.Asn188Ser
NC_000013.10:g.20716865T>C

Protein change:

N188S

Links:

dbSNP: rs140332366

NCBI 1000 Genomes Browser:

rs140332366

Molecular consequence:

NM_021954.4:c.563A>G - missense variant - [Sequence Ontology: SO:0001583]

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

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cytochrome oxidase subunit 1, partial (mitochondrion) [Pseudemys concinna concin...
cytochrome oxidase subunit 1, partial (mitochondrion) [Pseudemys concinna concinna]
gi|482665985|gb|AGK27253.1|

Protein
nucleoside hydrolase [Deinococcus radiodurans]
nucleoside hydrolase [Deinococcus radiodurans]
gi|499189508|ref|WP_010887048.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001787094	Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine	no assertion criteria provided	Likely pathogenic	inherited	case-control
SCV005081811	Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 21, 2023)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 35008666, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001787094

Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine

no assertion criteria provided

Likely pathogenic

inherited

case-control

SCV005081811

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(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
African American	inherited	yes	1	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.

Hassan AY, Yousaf S, Levin MR, Saeedi OJ, Riazuddin S, Alexander JL, Ahmed ZM.

Int J Mol Sci. 2021 Dec 27;23(1). doi:pii: 240. 10.3390/ijms23010240.

PubMed [citation]

PMID:: 35008666
PMCID:: PMC8745576

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 Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine, SCV001787094.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African American	1	not provided	not provided	case-control	not provided

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

From Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania, SCV005081811.1

#	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: PM2(Supporting), PM5(Supporting), PP3. Original variant report: PMID:35008666. The cataract phenotype reported for this variant is: Nuclear and cortical with dense fleck-like anterior/posterior subcapsular and diffuse dust-like pulverulent opacities. Additional phenotype/s reported in these individual/s are: High myopia. 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 23, 2024

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