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GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1 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:
RCV001267845.1

Allele description [Variation Report for GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1]

GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1

Genes:
  • DNAJC19:DnaJ heat shock protein family (Hsp40) member C19 [Gene - OMIM - HGNC]
  • FXR1:FMR1 autosomal homolog 1 [Gene - OMIM - HGNC]
  • SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
  • SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]
  • CCDC39:coiled-coil domain containing 39 [Gene - OMIM - HGNC]
  • TTC14:tetratricopeptide repeat domain 14 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q26.33
Genomic location:
Chr3: 180102701 - 181991155 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1
HGVS:
NC_000003.11:g.(?_180102701)_(181991155_?)del
Observations:
1

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
SCV001446331Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia
no assertion criteria provided
Pathogenicgermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia, SCV001446331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 17, 2022