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NM_001904.3(CTNNB1):c.865_867delACAinsCC (p.Thr289Profs)

Variation ID: Help
559642
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Apr 5, 2018
Number of submission(s):
1
Condition(s):
Mental retardation, autosomal dominant 19[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001904.3(CTNNB1):c.865_867delACAinsCC (p.Thr289Profs)

Allele ID:
550355
Variant type:
Indel
Cytogenetic location:
3p22.1
Genomic location:
  • Chr3: 41225790 - 41225792 (on Assembly GRCh38)
  • Chr3: 41267281 - 41267283 (on Assembly GRCh37)
HGVS:
  • NG_013302.2:g.31340_31342delACAinsCC
  • NM_001904.3:c.865_867delACAinsCC
  • NP_001895.1:p.Thr289Profs
  • NC_000003.12:g.41225790_41225792delACAinsCC (GRCh38)
  • NC_000003.11:g.41267281_41267283delACAinsCC (GRCh37)
  • NM_001904.3:c.865_867delinsCC
Links:
dbSNP: rs1553630507
NCBI 1000 Genomes Browser:
rs1553630507
Molecular consequence:
NM_001904.3:c.865_867delACAinsCC: frameshift variant [Sequence Ontology SO:0001589]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Apr 5, 2018)
no assertion criteria provided
clinical testingde novo
    Molecular Genetics Laboratory,BC Children's and BC Women's HospitalsSCV000803718.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Molecular Genetics Laboratory,BC Children's and BC Women's Hospitalsnot providednot providedde novonot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 15, 2019

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