NM_000551.4(VHL):c.586A>T (p.Lys196Ter) AND Von Hippel-Lindau syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 4, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000177084.2

Allele description [Variation Report for NM_000551.4(VHL):c.586A>T (p.Lys196Ter)]

NM_000551.4(VHL):c.586A>T (p.Lys196Ter)

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.586A>T (p.Lys196Ter)
HGVS:
  • NC_000003.12:g.10149909A>T
  • NG_008212.3:g.13275A>T
  • NG_046756.1:g.7671A>T
  • NM_000551.3:c.586A>T
  • NM_000551.4:c.586A>TMANE SELECT
  • NM_001354723.2:c.*140A>T
  • NM_198156.3:c.463A>T
  • NP_000542.1:p.Lys196Ter
  • NP_000542.1:p.Lys196Ter
  • NP_937799.1:p.Lys155Ter
  • LRG_322t1:c.586A>T
  • LRG_322:g.13275A>T
  • LRG_322p1:p.Lys196Ter
  • NC_000003.11:g.10191593A>T
  • p.[Lys196*]
Protein change:
K155*
Links:
dbSNP: rs281860296
NCBI 1000 Genomes Browser:
rs281860296
Molecular consequence:
  • NM_001354723.2:c.*140A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.586A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000551.4:c.586A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198156.3:c.463A>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000264773Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiano assertion criteria providedPathogenic
(Feb 26, 2016)
germlineclinical testing

SCV000697527Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Pathogenic
(Feb 4, 2016)
germlineclinical testing

PubMed (3)
[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 providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

Cho HJ, Ki CS, Kim JW.

J Korean Med Sci. 2009 Feb;24(1):77-83. doi: 10.3346/jkms.2009.24.1.77. Epub 2009 Feb 28.

PubMed [citation]
PMID:
19270817
PMCID:
PMC2650969

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Hwang S, Ku CR, Lee JI, Hur KY, Lee MS, Lee CH, Koo KY, Lee JS, Rhee Y.

J Hum Genet. 2014 Sep;59(9):488-93. doi: 10.1038/jhg.2014.61. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25078357
See all PubMed Citations (3)

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000264773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697527.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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