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NM_000551.4(VHL):c.231C>A (p.Cys77Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 2022
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:
RCV002863461.3

Allele description [Variation Report for NM_000551.4(VHL):c.231C>A (p.Cys77Ter)]

NM_000551.4(VHL):c.231C>A (p.Cys77Ter)

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)
HGVS:
  • NC_000003.12:g.10142078C>A
  • NG_008212.3:g.5444C>A
  • NM_000551.4:c.231C>AMANE SELECT
  • NM_001354723.2:c.231C>A
  • NM_198156.3:c.231C>A
  • NP_000542.1:p.Cys77Ter
  • NP_000542.1:p.Cys77Ter
  • NP_001341652.1:p.Cys77Ter
  • NP_937799.1:p.Cys77Ter
  • LRG_322t1:c.231C>A
  • LRG_322:g.5444C>A
  • LRG_322p1:p.Cys77Ter
  • NC_000003.11:g.10183762C>A
  • NM_000551.3:c.231C>A
  • NR_176335.1:n.301C>A
Protein change:
C77*
Molecular consequence:
  • NM_000551.4:c.231C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354723.2:c.231C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198156.3:c.231C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV003235179Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 14, 2022) 		germlineclinical testing

PubMed (6)
[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

VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.

Rechsteiner MP, von Teichman A, Nowicka A, Sulser T, Schraml P, Moch H.

Cancer Res. 2011 Aug 15;71(16):5500-11. doi: 10.1158/0008-5472.CAN-11-0757. Epub 2011 Jun 29.

PubMed [citation]
PMID:
21715564

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 (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003235179.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of von Hippel-Lindau syndrome (PMID: 21715564). This sequence change creates a premature translational stop signal (p.Cys77*) 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, 29891534, 31350093).

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

Last Updated: Sep 29, 2024