NM_000551.4(VHL):c.565del (p.Glu189fs) AND Von Hippel-Lindau syndrome

Clinical significance:Likely pathogenic (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000767295.1

Allele description [Variation Report for NM_000551.4(VHL):c.565del (p.Glu189fs)]

NM_000551.4(VHL):c.565del (p.Glu189fs)

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.565del (p.Glu189fs)
HGVS:
  • NC_000003.12:g.10149888del
  • NG_008212.3:g.13254del
  • NG_046756.1:g.7650del
  • NM_000551.4:c.565delMANE SELECT
  • NM_001354723.2:c.*119del
  • NM_198156.3:c.442del
  • NP_000542.1:p.Glu189fs
  • NP_937799.1:p.Glu148fs
  • LRG_322:g.13254del
  • NC_000003.11:g.10191572del
  • NM_000551.3:c.565delG
Protein change:
E148fs
Links:
dbSNP: rs1559429829
NCBI 1000 Genomes Browser:
rs1559429829
Molecular consequence:
  • NM_001354723.2:c.*119del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.442del - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000897853Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Likely pathogenic
(Aug 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000897853.1

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

Last Updated: May 10, 2021

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