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NM_000551.4(VHL):c.300dup (p.Leu101fs) AND Von Hippel-Lindau syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 9, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000208859.4

Allele description [Variation Report for NM_000551.4(VHL):c.300dup (p.Leu101fs)]

NM_000551.4(VHL):c.300dup (p.Leu101fs)

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.300dup (p.Leu101fs)
HGVS:
  • NC_000003.12:g.10142147dup
  • NG_008212.3:g.5513dup
  • NM_000551.4:c.300dupMANE SELECT
  • NM_001354723.2:c.300dup
  • NM_198156.3:c.300dup
  • NP_000542.1:p.Leu101fs
  • NP_001341652.1:p.Leu101fs
  • NP_937799.1:p.Leu101fs
  • LRG_322:g.5513dup
  • NC_000003.11:g.10183831dup
  • NM_000551.3:c.300dupG
  • p.[Leu101Alafs*31]
Protein change:
L101fs
Links:
dbSNP: rs869025626
NCBI 1000 Genomes Browser:
rs869025626
Molecular consequence:
  • NM_000551.4:c.300dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.300dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.300dup - frameshift variant - [Sequence Ontology: SO:0001589]
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264700Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
no assertion criteria provided
Pathogenic
(Feb 26, 2016) 		germlineclinical testing

SCV001950156Clinical Genomics Labs, University Health Network
no assertion criteria provided

(ACMG Guidelines, 2015)		Pathogenic
(Feb 9, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot 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, SCV000264700.1

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

From Clinical Genomics Labs, University Health Network, SCV001950156.1

#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: Aug 5, 2023