NM_000551.4(VHL):c.496_506del (p.Val166fs) AND Von Hippel-Lindau syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jun 12, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000208854.3

Allele description [Variation Report for NM_000551.4(VHL):c.496_506del (p.Val166fs)]

NM_000551.4(VHL):c.496_506del (p.Val166fs)

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.496_506del (p.Val166fs)
HGVS:
  • NC_000003.12:g.10149819_10149829del
  • NG_008212.3:g.13185_13195del
  • NG_046756.1:g.7581_7591del
  • NM_000551.3:c.496_506delGTCCGGAGCCT
  • NM_000551.4:c.496_506delMANE SELECT
  • NM_001354723.2:c.*50_*60del
  • NM_198156.3:c.373_383del
  • NP_000542.1:p.Val166fs
  • NP_937799.1:p.Val125fs
  • LRG_322:g.13185_13195del
  • NC_000003.11:g.10191503_10191513del
  • NM_000551.3:c.496_506del11
  • NM_000551.3:c.496_506delGTCCGGAGCCT
  • p.[Val166Serfs*4]
Protein change:
V125fs
Links:
dbSNP: rs869025663
NCBI 1000 Genomes Browser:
rs869025663
Molecular consequence:
  • NM_001354723.2:c.*50_*60del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.496_506del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.373_383del - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000264763Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiano assertion criteria providedLikely pathogenic
(Feb 26, 2016)
germlineclinical testing

SCV001950140University Health Network Clinical Genomics Labs,University Health Networkno assertion criteria provided
Likely pathogenic
(Jun 12, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
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, SCV000264763.1

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

From University Health Network Clinical Genomics Labs,University Health Network, SCV001950140.1

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

Last Updated: Oct 25, 2021

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