NM_000551.4(VHL):c.463G>C (p.Val155Leu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001577162.3

Allele description [Variation Report for NM_000551.4(VHL):c.463G>C (p.Val155Leu)]

NM_000551.4(VHL):c.463G>C (p.Val155Leu)

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.463G>C (p.Val155Leu)
HGVS:
  • NC_000003.12:g.10146636G>C
  • NG_008212.3:g.10002G>C
  • NG_046756.1:g.4398G>C
  • NM_000551.4:c.463G>CMANE SELECT
  • NM_001354723.2:c.*18-3151G>C
  • NM_198156.3:c.341-3151G>C
  • NP_000542.1:p.Val155Leu
  • LRG_322t1:c.463G>C
  • LRG_322:g.10002G>C
  • NC_000003.11:g.10188320G>C
  • NM_000551.3:c.463G>C
Protein change:
V155L
Molecular consequence:
  • NM_001354723.2:c.*18-3151G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3151G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.4:c.463G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001804498GeneDxcriteria provided, single submitter
Likely pathogenic
(Sep 18, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001804498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant at the last nucleotide of the exon in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed in large population cohorts (Lek 2016); Protein-based in silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29748190, 20233476, 15300849, 25525159, 21463266, 12202531)

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

Last Updated: Sep 29, 2021

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