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NM_016131.5(RAB10):c.189-1G>T AND CIC-DUX Sarcoma

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:
RCV000993815.1

Allele description [Variation Report for NM_016131.5(RAB10):c.189-1G>T]

NM_016131.5(RAB10):c.189-1G>T

Gene:
RAB10:RAB10, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_016131.5(RAB10):c.189-1G>T
HGVS:
  • NC_000002.12:g.26109767G>T
  • NM_016131.5:c.189-1G>TMANE SELECT
  • NC_000002.11:g.26332636G>T
Links:
dbSNP: rs1574556310
NCBI 1000 Genomes Browser:
rs1574556310
Molecular consequence:
  • NM_016131.5:c.189-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
CIC-DUX Sarcoma
Identifiers:
MedGen: C3899764

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001146983Children's Cancer Therapy Development Institute
no classification provided
not providedsomaticliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From Children's Cancer Therapy Development Institute, SCV001146983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023