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NM_001329.4(CTBP2):c.1220dup (p.Gly409fs) AND not provided

Germline classification:
Uncertain significance (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:
RCV001356944.1

Allele description [Variation Report for NM_001329.4(CTBP2):c.1220dup (p.Gly409fs)]

NM_001329.4(CTBP2):c.1220dup (p.Gly409fs)

Gene:
CTBP2:C-terminal binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NM_001329.4(CTBP2):c.1220dup (p.Gly409fs)
HGVS:
  • NC_000010.11:g.124989636dup
  • NM_001083914.3:c.1220dup
  • NM_001290214.3:c.1220dup
  • NM_001290215.3:c.1220dup
  • NM_001321012.2:c.1220dup
  • NM_001321013.2:c.1220dup
  • NM_001321014.2:c.1220dup
  • NM_001329.4:c.1220dupMANE SELECT
  • NM_001363508.2:c.1424dup
  • NM_022802.3:c.2840dup
  • NP_001077383.1:p.Gly409fs
  • NP_001277143.1:p.Gly409fs
  • NP_001277144.1:p.Gly409fs
  • NP_001307941.1:p.Gly409fs
  • NP_001307942.1:p.Gly409fs
  • NP_001307943.1:p.Gly409fs
  • NP_001320.1:p.Gly409fs
  • NP_001350437.1:p.Gly477fs
  • NP_073713.2:p.Gly949fs
  • NC_000010.10:g.126678205dup
Protein change:
G409fs
Links:
dbSNP: rs35551618
NCBI 1000 Genomes Browser:
rs35551618
Molecular consequence:
  • NM_001083914.3:c.1220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290214.3:c.1220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290215.3:c.1220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321012.2:c.1220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321013.2:c.1220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321014.2:c.1220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329.4:c.1220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363508.2:c.1424dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022802.3:c.2840dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001552245Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552245.1

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

Last Updated: Dec 24, 2023