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NM_000551.4(VHL):c.314dup (p.Arg107fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 23, 2021
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:
RCV002002254.6

Allele description [Variation Report for NM_000551.4(VHL):c.314dup (p.Arg107fs)]

NM_000551.4(VHL):c.314dup (p.Arg107fs)

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.314dup (p.Arg107fs)
HGVS:
  • NC_000003.12:g.10142161dup
  • NG_008212.3:g.5527dup
  • NM_000551.4:c.314dupMANE SELECT
  • NM_001354723.2:c.314dup
  • NM_198156.3:c.314dup
  • NP_000542.1:p.Arg107fs
  • NP_001341652.1:p.Arg107fs
  • NP_937799.1:p.Arg107fs
  • LRG_322:g.5527dup
  • NC_000003.11:g.10183844_10183845insC
  • NC_000003.11:g.10183845dup
Protein change:
R107fs
Links:
dbSNP: rs2125125325
NCBI 1000 Genomes Browser:
rs2125125325
Molecular consequence:
  • NM_000551.4:c.314dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.314dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.314dup - 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
SCV002230827Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 23, 2021) 		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

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

Leonardi E, Martella M, Tosatto SC, Murgia A.

Ann Hum Genet. 2011 Jul;75(4):483-96. doi: 10.1111/j.1469-1809.2011.00647.x. Epub 2011 Apr 4.

PubMed [citation]
PMID:
21463266

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
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002230827.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of von Hippel-Lindau syndrome (PMID: 21463266). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg107Profs*25) in the VHL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531).

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

Last Updated: Sep 29, 2024