NM_000551.4(VHL):c.439A>G (p.Ile147Val) AND Von Hippel-Lindau syndrome

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000411268.2

Allele description [Variation Report for NM_000551.4(VHL):c.439A>G (p.Ile147Val)]

NM_000551.4(VHL):c.439A>G (p.Ile147Val)

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.439A>G (p.Ile147Val)
HGVS:
  • NC_000003.12:g.10146612A>G
  • NG_008212.3:g.9978A>G
  • NG_046756.1:g.4374A>G
  • NM_000551.3:c.439A>G
  • NM_000551.4:c.439A>GMANE SELECT
  • NM_001354723.2:c.*18-3175A>G
  • NM_198156.3:c.341-3175A>G
  • NP_000542.1:p.Ile147Val
  • NP_000542.1:p.Ile147Val
  • LRG_322t1:c.439A>G
  • LRG_322:g.9978A>G
  • LRG_322p1:p.Ile147Val
  • NC_000003.11:g.10188296A>G
  • NM_000551.2:c.439A>G
Protein change:
I147V
Links:
dbSNP: rs1057517560
NCBI 1000 Genomes Browser:
rs1057517560
Molecular consequence:
  • NM_001354723.2:c.*18-3175A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3175A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.3:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000551.4:c.439A>G - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000488457Counsylcriteria provided, single submitter
Uncertain significance
(Apr 1, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001304544Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Bilateral renal tumors; conventional clear cell carcinoma and contralateral t(6;11)/t(X;17)-like tumor Histomorphologic, immunohistochemical, ultrastructural and molecular genetic studies including the report of a novel mutation in the VHL gene.

Petersson F, Michal M, Vaněček T, Hora M, Trivunic S, Halbhuber Z, Hes O.

Ann Diagn Pathol. 2011 Oct;15(5):362-9. doi: 10.1016/j.anndiagpath.2010.05.004. Epub 2010 Aug 14.

PubMed [citation]
PMID:
20952280

Details of each submission

From Counsyl, SCV000488457.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001304544.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 27, 2021

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