NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe) AND Von Hippel-Lindau syndrome

Clinical significance:Likely 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:
RCV000208832.1

Allele description [Variation Report for NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)]

NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)

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:
Indel
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)
HGVS:
  • NC_000003.12:g.10146554_10146555delinsTT
  • NG_008212.3:g.9920_9921delinsTT
  • NG_046756.1:g.4316_4317delinsTT
  • NM_000551.4:c.381_382delinsTTMANE SELECT
  • NM_001354723.2:c.*18-3233_*18-3232delinsTT
  • NM_198156.3:c.341-3233_341-3232delinsTT
  • NP_000542.1:p.Leu128Phe
  • LRG_322:g.9920_9921delinsTT
  • NC_000003.11:g.10188238_10188239delinsTT
  • p.[Leu128Phe]
Protein change:
L128F
Links:
dbSNP: rs869025645
NCBI 1000 Genomes Browser:
rs869025645
Molecular consequence:
  • NM_001354723.2:c.*18-3233_*18-3232delinsTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3233_341-3232delinsTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.4:c.381_382delinsTT - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

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
SCV000264728Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiano assertion criteria providedLikely pathogenic
(Feb 26, 2016)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000264728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

Last Updated: Oct 25, 2021

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