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NM_000551.4(VHL):c.464-2A>G 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:
RCV001542804.1

Allele description [Variation Report for NM_000551.4(VHL):c.464-2A>G]

NM_000551.4(VHL):c.464-2A>G

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.464-2A>G
HGVS:
  • NC_000003.12:g.10149785A>G
  • NG_008212.3:g.13151A>G
  • NG_046756.1:g.7547A>G
  • NM_000551.4:c.464-2A>GMANE SELECT
  • NM_001354723.2:c.*18-2A>G
  • NM_198156.3:c.341-2A>G
  • LRG_322t1:c.464-2A>G
  • LRG_322:g.13151A>G
  • NC_000003.11:g.10191469A>G
  • NM_000551.3:c.464-2A>G
Links:
dbSNP: rs5030816
NCBI 1000 Genomes Browser:
rs5030816
Molecular consequence:
  • NM_000551.4:c.464-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354723.2:c.*18-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_198156.3:c.341-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

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
SCV001761180MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticin vivo

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot applicablenot providednot providednot providednot providednot providedin vivo

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing, NIH, SCV001761180.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vivonot provided

Description

Intron inclusion between exons 2 & 3, based on review of RNA-seq in TCGA-XK-AAIW-01A tumor which has VHL NM_000551.4:c.464-2A>G variant

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

Last Updated: Nov 3, 2024