NM_000551.4(VHL):c.533_534del (p.Leu178fs) AND Von Hippel-Lindau syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000767286.1

Allele description [Variation Report for NM_000551.4(VHL):c.533_534del (p.Leu178fs)]

NM_000551.4(VHL):c.533_534del (p.Leu178fs)

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.533_534del (p.Leu178fs)
HGVS:
  • NC_000003.12:g.10149856_10149857del
  • NG_008212.3:g.13222_13223del
  • NG_046756.1:g.7618_7619del
  • NM_000551.4:c.533_534delMANE SELECT
  • NM_001354723.2:c.*87_*88del
  • NM_198156.3:c.410_411del
  • NP_000542.1:p.Leu178fs
  • NP_937799.1:p.Leu137fs
  • LRG_322:g.13222_13223del
  • NC_000003.11:g.10191540_10191541del
  • NM_000551.3:c.533_534delTG
Protein change:
L137fs
Links:
dbSNP: rs1559429736
NCBI 1000 Genomes Browser:
rs1559429736
Molecular consequence:
  • NM_001354723.2:c.*87_*88del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.533_534del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.410_411del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
3

Condition(s)

Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000897844Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Pathogenic
(Aug 1, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000897844.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 29, 2024