NM_003106.4(SOX2):c.943_944del (p.Ser315fs) AND Anophthalmia/microphthalmia-esophageal atresia syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV001267870.1

Allele description [Variation Report for NM_003106.4(SOX2):c.943_944del (p.Ser315fs)]

NM_003106.4(SOX2):c.943_944del (p.Ser315fs)

Genes:

SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

3q26.33

Genomic location:

Preferred name:

NM_003106.4(SOX2):c.943_944del (p.Ser315fs)

HGVS:

NC_000003.12:g.181713301TC[1]
NG_009080.1:g.6368TC[1]
NM_003106.4:c.943_944delMANE SELECT
NP_003097.1:p.Ser315fs
LRG_719:g.6368TC[1]
NC_000003.11:g.181431089TC[1]
NM_003106.3:c.943_944del

Protein change:

S315fs

Links:

dbSNP: rs1714883683

NCBI 1000 Genomes Browser:

rs1714883683

Molecular consequence:

NM_003106.4:c.943_944del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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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Mus musculus transmembrane protein 49, mRNA (cDNA clone MGC:7590 IMAGE:3493738),...
Mus musculus transmembrane protein 49, mRNA (cDNA clone MGC:7590 IMAGE:3493738), complete cds
gi|13278399|gb|BC004013.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001446356	Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001446356

Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia, SCV001446356.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

Patient has symptoms similar to SOX2 related disease and is suspected to be pathogenic

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

Last Updated: Dec 17, 2022

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