NM_001354723.2(VHL):c.*28_*30delinsC AND Von Hippel-Lindau syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 17, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000589692.1

Allele description [Variation Report for NM_001354723.2(VHL):c.*28_*30delinsC]

NM_001354723.2(VHL):c.*28_*30delinsC

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:
Indel
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001354723.2(VHL):c.*28_*30delinsC
HGVS:
  • NC_000003.12:g.10149797_10149799delinsC
  • NG_008212.3:g.13163_13165delinsC
  • NG_046756.1:g.7559_7561delinsC
  • NM_001354723.2:c.*28_*30delinsC
  • NM_198156.3:c.351_353delinsC
  • NP_937799.1:p.Lys118fs
  • LRG_322t1:c.474_476delinsC
  • LRG_322:g.13163_13165delinsC
  • LRG_322p1:p.Lys159fs
  • NC_000003.11:g.10191481_10191483delinsC
Protein change:
K118fs
Links:
dbSNP: rs1553620305
NCBI 1000 Genomes Browser:
rs1553620305
Molecular consequence:
  • NM_001354723.2:c.*28_*30delinsC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_198156.3:c.351_353delinsC - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000697520Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Pathogenic
(Jun 17, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic analysis of von Hippel-Lindau disease.

Nordstrom-O'Brien M, van der Luijt RB, van Rooijen E, van den Ouweland AM, Majoor-Krakauer DF, Lolkema MP, van Brussel A, Voest EE, Giles RH.

Hum Mutat. 2010 May;31(5):521-37. doi: 10.1002/humu.21219.

PubMed [citation]
PMID:
20151405

Genotype-phenotype correlations in von Hippel-Lindau disease.

Ong KR, Woodward ER, Killick P, Lim C, Macdonald F, Maher ER.

Hum Mutat. 2007 Feb;28(2):143-9.

PubMed [citation]
PMID:
17024664

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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