NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) AND Developmental cataract

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: May 1, 2021
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:: RCV000203321.3

Allele description [Variation Report for NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)]

NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)

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.176C>T (p.Pro59Leu)

HGVS:

NC_000013.11:g.20143113G>A
NG_016399.1:g.22932C>T
NM_021954.4:c.176C>TMANE SELECT
NP_068773.2:p.Pro59Leu
NC_000013.10:g.20717252G>A
NM_021954.3:c.176C>T
Q9Y6H8:p.Pro59Leu

Protein change:

P59L

Links:

UniProtKB: Q9Y6H8#VAR_030022; dbSNP: rs864309691

NCBI 1000 Genomes Browser:

rs864309691

Molecular consequence:

NM_021954.4:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental cataract
Synonyms:: Congenital cataract; Congenital cataracts
Identifiers:: MedGen: C0009691; Human Phenotype Ontology: HP:0000519

Recent activity

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phage head-tail connector protein [Algimonas porphyrae]
phage head-tail connector protein [Algimonas porphyrae]
gi|2513723747|ref|WP_284370848.1|

Protein
1-acyl-sn-glycerol-3-phosphate acyltransferase [Algimonas porphyrae]
1-acyl-sn-glycerol-3-phosphate acyltransferase [Algimonas porphyrae]
gi|2513726627|ref|WP_284373728.1|

Protein
Homo sapiens ribosomal protein S6 kinase A1 (RPS6KA1), transcript variant 1, mRN...
Homo sapiens ribosomal protein S6 kinase A1 (RPS6KA1), transcript variant 1, mRNA
gi|1519313352|ref|NM_002953.4|

Nucleotide
Cities
Cities
A large or important municipality of a country, usually a major metropolitan center.<br/>Year introduced: 1998

MeSH
Philippines
Philippines
A country in southeastern Asia, archipelago between the Philippine Sea and the South China Sea, and east of Vietnam. The capital is Manila.<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256021	Eye Genetics Research Group, Children's Medical Research Institute	no assertion criteria provided	Pathogenic (Jan 9, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001573165	Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 1, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256021

Eye Genetics Research Group, Children's Medical Research Institute

no assertion criteria provided

Pathogenic
(Jan 9, 2015)

unknown

research

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

SCV001573165

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 1, 2021)

germline

research

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

Description

Family 26: SCV000256021

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	research
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV.

Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14.

PubMed [citation]

PMID:: 26694549
PMCID:: PMC4787201

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 Eye Genetics Research Group, Children's Medical Research Institute, SCV000256021.1

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

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

From Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania, SCV001573165.1

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

#	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: Sep 29, 2024

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