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NM_001904.4(CTNNB1):c.211dup (p.Ser71fs) AND Severe intellectual disability-progressive spastic diplegia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 5, 2018
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:
RCV001265237.1

Allele description [Variation Report for NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)]

NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)

Genes:
LOC126806658:BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 [Gene]
CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p22.1
Genomic location:
Preferred name:
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)
HGVS:
  • NC_000003.12:g.41224723dup
  • NG_013302.2:g.30273dup
  • NM_001098209.2:c.211dup
  • NM_001098210.2:c.211dup
  • NM_001330729.2:c.190dup
  • NM_001904.4:c.211dupMANE SELECT
  • NP_001091679.1:p.Ser71fs
  • NP_001091680.1:p.Ser71fs
  • NP_001317658.1:p.Ser64fs
  • NP_001895.1:p.Ser71fs
  • LRG_1108t1:c.211dup
  • LRG_1108:g.30273dup
  • LRG_1108p1:p.Ser71fs
  • NC_000003.11:g.41266214dup
  • NM_001904.3:c.211dup
  • NM_001904.3:c.211dupT
Protein change:
S64fs
Links:
dbSNP: rs1575315766
NCBI 1000 Genomes Browser:
rs1575315766
Molecular consequence:
  • NM_001098209.2:c.211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001098210.2:c.211dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330729.2:c.190dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001904.4:c.211dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Severe intellectual disability-progressive spastic diplegia syndrome (NEDSDV)
Synonyms:
NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
Identifiers:
MONDO: MONDO:0014035; MedGen: C3554449; Orphanet: 404473; OMIM: 615075

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443349GenomeConnect - Simons Searchlight
no assertion criteria provided
Pathogenic
(Nov 5, 2018) 		de novoprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-11-05 and interpreted as Pathogenic. Variant was initially reported on 2018-09-08 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023