NM_000551.4(VHL):c.490C>T (p.Gln164Ter) AND Von Hippel-Lindau syndrome

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000208820.1

Allele description [Variation Report for NM_000551.4(VHL):c.490C>T (p.Gln164Ter)]

NM_000551.4(VHL):c.490C>T (p.Gln164Ter)

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.490C>T (p.Gln164Ter)
HGVS:
  • NC_000003.12:g.10149813C>T
  • NG_008212.3:g.13179C>T
  • NG_046756.1:g.7575C>T
  • NM_000551.3:c.490C>T
  • NM_000551.4:c.490C>TMANE SELECT
  • NM_001354723.2:c.*44C>T
  • NM_198156.3:c.367C>T
  • NP_000542.1:p.Gln164Ter
  • NP_000542.1:p.Gln164Ter
  • NP_937799.1:p.Gln123Ter
  • LRG_322t1:c.490C>T
  • LRG_322:g.13179C>T
  • LRG_322p1:p.Gln164Ter
  • NC_000003.11:g.10191497C>T
  • p.[Gln164*]
Protein change:
Q123*
Links:
dbSNP: rs5030819
NCBI 1000 Genomes Browser:
rs5030819
Molecular consequence:
  • NM_001354723.2:c.*44C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.490C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000551.4:c.490C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198156.3:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
4

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
SCV000264762Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiano assertion criteria providedLikely pathogenic
(Feb 26, 2016)
germlineclinical testing

SCV000782419Center for Human Genetics, Inc,Center for Human Genetics, Inccriteria provided, single submitter
Pathogenic
(Nov 1, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000264762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

From Center for Human Genetics, Inc,Center for Human Genetics, Inc, SCV000782419.1

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

Last Updated: Oct 25, 2021

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