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NM_001205254.2(OCLN):c.252del (p.Ser85fs) AND Pseudo-TORCH syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 1, 2015
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:
RCV000201608.3

Allele description [Variation Report for NM_001205254.2(OCLN):c.252del (p.Ser85fs)]

NM_001205254.2(OCLN):c.252del (p.Ser85fs)

Gene:
OCLN:occludin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_001205254.2(OCLN):c.252del (p.Ser85fs)
HGVS:
  • NC_000005.10:g.69509342del
  • NG_028291.1:g.22051del
  • NM_001205254.2:c.252delMANE SELECT
  • NM_001205255.1:c.-24-4606del
  • NM_002538.4:c.252del
  • NP_001192183.1:p.Ser85fs
  • NP_002529.1:p.Ser85fs
  • NC_000005.9:g.68805169del
  • NM_002538.3:c.252delC
Protein change:
S85fs
Links:
dbSNP: rs863225128
NCBI 1000 Genomes Browser:
rs863225128
Molecular consequence:
  • NM_001205254.2:c.252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002538.4:c.252del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001205255.1:c.-24-4606del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Pseudo-TORCH syndrome 1 (PTORCH1)
Synonyms:
Band-like calcification with simplified gyration and polymicrogyria
Identifiers:
MONDO: MONDO:0020789; MedGen: C4552078; Orphanet: 1229; OMIM: 251290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256236Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
no assertion criteria provided
Likely pathogenic
(Sep 1, 2015) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes31not provided3yesresearch

Details of each submission

From Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS, SCV000256236.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyesresearchnot provided
2not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes3not provideddiscovery3not provided1not provided
2germlineyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: May 7, 2024