NM_000551.4(VHL):c.*1808A>G AND Von Hippel-Lindau syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000361788.2

Allele description [Variation Report for NM_000551.4(VHL):c.*1808A>G]

NM_000551.4(VHL):c.*1808A>G

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.*1808A>G
HGVS:
  • NC_000003.12:g.10151773A>G
  • NG_008212.3:g.15139A>G
  • NG_046756.1:g.9535A>G
  • NM_000551.4:c.*1808A>GMANE SELECT
  • NM_001354723.2:c.*2004A>G
  • NM_198156.3:c.*1808A>G
  • LRG_322t1:c.*1808A>G
  • LRG_322:g.15139A>G
  • NC_000003.11:g.10193457A>G
  • NM_000551.3:c.*1808A>G
Links:
dbSNP: rs886057727
NCBI 1000 Genomes Browser:
rs886057727
Molecular consequence:
  • NM_000551.4:c.*1808A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354723.2:c.*2004A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_198156.3:c.*1808A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV000439684Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000439684.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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