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NM_000551.4(VHL):c.*2541_*2546del AND Von Hippel-Lindau syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000369674.5

Allele description [Variation Report for NM_000551.4(VHL):c.*2541_*2546del]

NM_000551.4(VHL):c.*2541_*2546del

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:
Deletion
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.*2541_*2546del
HGVS:
  • NC_000003.12:g.10152506_10152511del
  • NG_008212.3:g.15872_15877del
  • NG_046756.1:g.10268_10273del
  • NM_000551.4:c.*2541_*2546delMANE SELECT
  • NM_001354723.2:c.*2737_*2742del
  • NM_198156.3:c.*2541_*2546del
  • LRG_322:g.15872_15877del
  • NC_000003.11:g.10194190_10194195del
  • NM_000551.3:c.*2541_*2546delTTTTTG
Links:
dbSNP: rs886057738
NCBI 1000 Genomes Browser:
rs886057738
Molecular consequence:
  • NM_000551.4:c.*2541_*2546del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354723.2:c.*2737_*2742del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_198156.3:c.*2541_*2546del - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000439707Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000439707.2

#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: Aug 5, 2023