NM_000693.4(ALDH1A3):c.475+1G>T AND Isolated microphthalmia 8

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 7, 2013
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:: RCV000033223.5

Allele description [Variation Report for NM_000693.4(ALDH1A3):c.475+1G>T]

NM_000693.4(ALDH1A3):c.475+1G>T

Genes:

ALDH1A3-AS1:ALDH1A3 antisense RNA 1 [Gene - HGNC]
ALDH1A3:aldehyde dehydrogenase 1 family member A3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.3

Genomic location:

Preferred name:

NM_000693.4(ALDH1A3):c.475+1G>T

HGVS:

NC_000015.10:g.100892640G>T
NG_012254.1:g.17837G>T
NM_000693.4:c.475+1G>TMANE SELECT
NM_001293815.2:c.346-3293G>T
NC_000015.9:g.101432845G>T
NM_000693.2:c.475+1G>T
NR_135827.1:n.3907C>A

Nucleotide change:

IVSDS, G-T, +1

Links:

OMIM: 600463.0003; dbSNP: rs78931658

NCBI 1000 Genomes Browser:

rs78931658

Molecular consequence:

NM_001293815.2:c.346-3293G>T - intron variant - [Sequence Ontology: SO:0001627]
NR_135827.1:n.3907C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000693.4:c.475+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Isolated microphthalmia 8
Identifiers:: MONDO: MONDO:0014050; MedGen: C3554524; Orphanet: 2542; OMIM: 615113

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057075	OMIM	no assertion criteria provided	Pathogenic (Feb 7, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057075

OMIM

no assertion criteria provided

Pathogenic
(Feb 7, 2013)

germline

literature only

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

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

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM.

Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9.

PubMed [citation]

PMID:: 23312594
PMCID:: PMC3567280

Details of each submission

From OMIM, SCV000057075.1

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

Description

In an affected girl from a consanguineous Moroccan family with bilateral severe microphthalmia (MCOP8; 615113), Fares-Taie et al. (2013) identified homozygosity for a 475+1G-T splice site transversion in the ALDH1A3 gene, predicted to abolish a splice donor site and cause in-frame skipping of exon 5. Her unaffected parents and an unaffected brother were heterozygous for the mutation.

#	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: Jun 10, 2023

ClinVar

Relating variation to medicine