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NM_000551.4(VHL):c.163dup (p.Glu55fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 2019
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:
RCV001036535.7

Allele description [Variation Report for NM_000551.4(VHL):c.163dup (p.Glu55fs)]

NM_000551.4(VHL):c.163dup (p.Glu55fs)

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.163dup (p.Glu55fs)
HGVS:
  • NC_000003.12:g.10142010dup
  • NG_008212.3:g.5376dup
  • NM_000551.4:c.163dupMANE SELECT
  • NM_001354723.2:c.163dup
  • NM_198156.3:c.163dup
  • NP_000542.1:p.Glu55fs
  • NP_000542.1:p.Glu55fs
  • NP_001341652.1:p.Glu55fs
  • NP_937799.1:p.Glu55fs
  • LRG_322t1:c.163dup
  • LRG_322:g.5376dup
  • LRG_322p1:p.Glu55fs
  • NC_000003.11:g.10183692_10183693insG
  • NC_000003.11:g.10183694dup
  • NM_000551.3:c.163dup
  • NM_000551.3:c.163dupG
  • p.[Glu55Glyfs*77]
Protein change:
E55fs
Links:
dbSNP: rs869025615
NCBI 1000 Genomes Browser:
rs869025615
Molecular consequence:
  • NM_000551.4:c.163dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.163dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.163dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Chuvash polycythemia
Synonyms:
POLYCYTHEMIA, VHL-DEPENDENT; Erythrocytosis, familial, 2
Identifiers:
MONDO: MONDO:0009892; MedGen: C1837915; Orphanet: 238557; OMIM: 263400
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
SCV001199903Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 3, 2019) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, Webster AR, Affara NA, Ferguson-Smith MA, Brauch H, Glavac D, Neumann HP, Tisherman S, Mulvihill JJ, Gross DJ, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, et al.

Hum Mutat. 1996;8(4):348-57.

PubMed [citation]
PMID:
8956040

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

Dollfus H, Massin P, Taupin P, Nemeth C, Amara S, Giraud S, Béroud C, Dureau P, Gaudric A, Landais P, Richard S.

Invest Ophthalmol Vis Sci. 2002 Sep;43(9):3067-74.

PubMed [citation]
PMID:
12202531
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001199903.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). This variant has been observed in a family with clinical features of von Hippel-Lindau syndrome (PMID: 15300849). ClinVar contains an entry for this variant (Variation ID: 223159). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu55Glyfs*77) in the VHL gene. It is expected to result in an absent or disrupted protein product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024