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NM_000551.4(VHL):c.464-117del AND Von Hippel-Lindau syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000030588.2

Allele description [Variation Report for NM_000551.4(VHL):c.464-117del]

NM_000551.4(VHL):c.464-117del

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:
Deletion
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.464-117del
HGVS:
  • NC_000003.12:g.10149670del
  • NG_008212.3:g.13036del
  • NG_046756.1:g.7432del
  • NM_000551.4:c.464-117delMANE SELECT
  • NM_001354723.2:c.*18-117del
  • NM_198156.3:c.341-117del
  • LRG_322:g.13036del
  • NC_000003.11:g.10191354del
  • NM_000551.3:c.464-117delT
Links:
dbSNP: rs193922612
NCBI 1000 Genomes Browser:
rs193922612
Molecular consequence:
  • NM_000551.4:c.464-117del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354723.2:c.*18-117del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-117del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053264Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		uncertain
(Aug 18, 2011) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053264.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Last Updated: Aug 5, 2023