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NM_003106.4(SOX2):c.67_89del (p.Gly23fs) 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:
RCV004577418.2

Allele description [Variation Report for NM_003106.4(SOX2):c.67_89del (p.Gly23fs)]

NM_003106.4(SOX2):c.67_89del (p.Gly23fs)

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:
Deletion
Cytogenetic location:
3q26.33
Genomic location:
Preferred name:
NM_003106.4(SOX2):c.67_89del (p.Gly23fs)
HGVS:
  • NC_000003.12:g.181712427_181712449del
  • NG_009080.1:g.5494_5516del
  • NG_051137.2:g.4680_4702del
  • NM_003106.4:c.67_89delMANE SELECT
  • NP_003097.1:p.Gly23Argfs
  • NP_003097.1:p.Gly23fs
  • LRG_719t1:c.67_89del23
  • LRG_719:g.5494_5516del
  • LRG_719p1:p.Gly23Argfs
  • NC_000003.11:g.181430215_181430237del
  • NM_003106.2:c.67_89del23
Protein change:
G23fs
Molecular consequence:
  • NM_003106.4:c.67_89del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005061402Dr.Nikuei Genetic Center
no assertion criteria provided
Pathogenicgermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Dr.Nikuei Genetic Center, SCV005061402.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024