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NM_000551.3(VHL):c.-77_-32del AND Von Hippel-Lindau syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000504180.15

Allele description [Variation Report for NM_000551.3(VHL):c.-77_-32del]

NM_000551.3(VHL):c.-77_-32del

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.3(VHL):c.-77_-32del
HGVS:
  • NC_000003.12:g.10141771_10141816del
  • NG_008212.3:g.5137_5182del
  • LRG_322t1:c.-77_-32del
  • LRG_322:g.5137_5182del
  • NC_000003.11:g.10183455_10183500del
  • NM_000551.3:c.-77_-32del
  • NM_000551.3:c.-77_-32del46
Links:
dbSNP: rs1553619239
NCBI 1000 Genomes Browser:
rs1553619239

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
SCV000590952PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Aug 24, 2017) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000590952.2

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

Last Updated: Apr 20, 2024