NM_003106.4(SOX2):c.277G>T (p.Glu93Ter) AND Anophthalmia/microphthalmia-esophageal atresia syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 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:: RCV000013663.22

Allele description [Variation Report for NM_003106.4(SOX2):c.277G>T (p.Glu93Ter)]

NM_003106.4(SOX2):c.277G>T (p.Glu93Ter)

Genes:

LOC108281177:SOX2 5' regulatory region [Gene]
SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.33

Genomic location:

Preferred name:

NM_003106.4(SOX2):c.277G>T (p.Glu93Ter)

HGVS:

NC_000003.12:g.181712637G>T
NG_009080.1:g.5704G>T
NM_003106.4:c.277G>TMANE SELECT
NP_003097.1:p.Glu93Ter
LRG_719:g.5704G>T
NC_000003.11:g.181430425G>T

Protein change:

E93*; GLU93TER

Links:

OMIM: 184429.0002; dbSNP: rs104893800

NCBI 1000 Genomes Browser:

rs104893800

Molecular consequence:

NM_003106.4:c.277G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Anophthalmia/microphthalmia-esophageal atresia syndrome (MCOPS3)
Synonyms:: Microphthalmia syndromic 3; Microphthalmia and esophageal atresia syndrome; Anophthalmia clinical with associated anomalies; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008799; MedGen: C1859773; Orphanet: 77298; OMIM: 206900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033910	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2003)	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

SCV000033910

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2003)

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

Mutations in SOX2 cause anophthalmia.

Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR.

Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.

PubMed [citation]

PMID:: 12612584

Details of each submission

From OMIM, SCV000033910.3

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

Description

In a female patient with clinical anophthalmia of the right eye, microphthalmia and sclerocornea of the left eye (MCOPS3; 206900), and proximal myopathy, Fantes et al. (2003) found a de novo heterozygous glu93-to-stop (E93X) mutation of the SOX2 gene. Intelligence was normal in this patient.

#	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: Mar 26, 2023

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