NM_000551.4(VHL):c.444del (p.Phe148fs) AND Von Hippel-Lindau syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 26, 2016)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208793.1

Allele description [Variation Report for NM_000551.4(VHL):c.444del (p.Phe148fs)]

NM_000551.4(VHL):c.444del (p.Phe148fs)

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.444del (p.Phe148fs)
HGVS:
  • NC_000003.12:g.10146617del
  • NG_008212.3:g.9983del
  • NG_046756.1:g.4379del
  • NM_000551.4:c.444delMANE SELECT
  • NM_001354723.2:c.*18-3170del
  • NM_198156.3:c.341-3170del
  • NP_000542.1:p.Phe148fs
  • LRG_322:g.9983del
  • NC_000003.11:g.10188297del
  • NC_000003.11:g.10188301del
  • NM_000551.3:c.444delT
  • p.[Phe148Leufs*11]
Protein change:
F148fs
Links:
dbSNP: rs869025653
NCBI 1000 Genomes Browser:
rs869025653
Molecular consequence:
  • NM_000551.4:c.444del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.*18-3170del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3170del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

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
SCV000264738Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiano assertion criteria providedPathogenic
(Feb 26, 2016)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000264738.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 25, 2021

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