U.S. flag

An official website of the United States government

NM_000551.4(VHL):c.464-1G>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:
RCV001706206.1

Allele description [Variation Report for NM_000551.4(VHL):c.464-1G>C]

NM_000551.4(VHL):c.464-1G>C

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.464-1G>C
Other names:
NM_000551.4:c.464-1G>C
HGVS:
  • NC_000003.12:g.10149786G>C
  • NG_008212.3:g.13152G>C
  • NG_046756.1:g.7548G>C
  • NM_000551.4:c.464-1G>CMANE SELECT
  • NM_001354723.2:c.*18-1G>C
  • NM_198156.3:c.341-1G>C
  • LRG_322t1:c.464-1G>C
  • LRG_322:g.13152G>C
  • NC_000003.11:g.10191470G>C
  • NM_000551.3:c.464-1G>C
Links:
dbSNP: rs5030817
NCBI 1000 Genomes Browser:
rs5030817
Molecular consequence:
  • NM_000551.4:c.464-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354723.2:c.*18-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_198156.3:c.341-1G>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
Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001934217MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticresearch

Citation Link

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, SCV001934217.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Intron inclusion between exons 2 & 3, based on review of RNA-seq in TCGA-B0-5095-01A tumor which has VHL NM_000551.4:c.464-1G>C variant

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

Last Updated: Aug 5, 2023