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NM_000551.4(VHL):c.488T>C (p.Leu163Pro) AND Von Hippel-Lindau syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 5, 2024
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:
RCV004018540.2

Allele description [Variation Report for NM_000551.4(VHL):c.488T>C (p.Leu163Pro)]

NM_000551.4(VHL):c.488T>C (p.Leu163Pro)

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:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)
HGVS:
  • NC_000003.12:g.10149811T>C
  • NG_008212.3:g.13177T>C
  • NG_046756.1:g.7573T>C
  • NM_000551.4:c.488T>CMANE SELECT
  • NM_001354723.2:c.*42T>C
  • NM_198156.3:c.365T>C
  • NP_000542.1:p.Leu163Pro
  • NP_000542.1:p.Leu163Pro
  • NP_937799.1:p.Leu122Pro
  • LRG_322t1:c.488T>C
  • LRG_322:g.13177T>C
  • LRG_322p1:p.Leu163Pro
  • NC_000003.11:g.10191495T>C
  • NM_000551.3:c.488T>C
  • P40337:p.Leu163Pro
Protein change:
L122P; LEU163PRO
Links:
UniProtKB: P40337#VAR_034998; OMIM: 608537.0018; dbSNP: rs28940297
NCBI 1000 Genomes Browser:
rs28940297
Molecular consequence:
  • NM_001354723.2:c.*42T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.365T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004930953Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Mar 5, 2024) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.

Wiesener MS, Seyfarth M, Warnecke C, Jürgensen JS, Rosenberger C, Morgan NV, Maher ER, Frei U, Eckardt KU.

Blood. 2002 May 15;99(10):3562-5.

PubMed [citation]
PMID:
11986208

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Hwang S, Ku CR, Lee JI, Hur KY, Lee MS, Lee CH, Koo KY, Lee JS, Rhee Y.

J Hum Genet. 2014 Sep;59(9):488-93. doi: 10.1038/jhg.2014.61. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25078357
See all PubMed Citations (3)

Details of each submission

From Myriad Genetics, Inc., SCV004930953.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 11986208]. This variant is expected to disrupt protein structure [Myriad internal data]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 25078357, 29595810].

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

Last Updated: Sep 29, 2024