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NM_005188.4(CBL):c.1096-1G>C AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001789707.1

Allele description [Variation Report for NM_005188.4(CBL):c.1096-1G>C]

NM_005188.4(CBL):c.1096-1G>C

Gene:
CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_005188.4(CBL):c.1096-1G>C
Other names:
NM_005188.4:c.1096-1G>C
HGVS:
  • NC_000011.10:g.119278165G>C
  • NG_016808.1:g.76886G>C
  • NM_005188.4:c.1096-1G>CMANE SELECT
  • LRG_608t1:c.1096-1G>C
  • LRG_608:g.76886G>C
  • NC_000011.9:g.119148875G>C
  • NM_005188.2:c.1096-1G>C
  • NM_005188.3:c.1096-1G>C
  • c.1096-1G>C
Links:
dbSNP: rs397517076
NCBI 1000 Genomes Browser:
rs397517076
Molecular consequence:
  • NM_005188.4:c.1096-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002032106MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticresearch

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot applicablenot providednot providednot providednot providednot providedresearch

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing, NIH, SCV002032106.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Intron inclusion between exons 7 & 8, based on review of RNA-seq in TCGA-AB-2914-03A tumor which has CBL NM_005188.4:c.1096-1G>C variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025