NM_000551.4(VHL):c.586A>T (p.Lys196Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 11, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000724622.1

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000228905EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 11, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000228905.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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