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NM_000551.4(VHL):c.-54_-35dup AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2014
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:
RCV000161095.1

Allele description [Variation Report for NM_000551.4(VHL):c.-54_-35dup]

NM_000551.4(VHL):c.-54_-35dup

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.-54_-35dup
HGVS:
  • NC_000003.12:g.10141794_10141813dup
  • NG_008212.3:g.5160_5179dup
  • NM_000551.3:c.-54_-35dup20
  • NM_000551.4:c.-54_-35dupMANE SELECT
  • NM_001354723.2:c.-54_-35dup
  • NM_198156.3:c.-54_-35dup
  • LRG_322t1:c.-54_-35dup20
  • LRG_322:g.5160_5179dup
  • NC_000003.11:g.10183478_10183497dup
  • NM_000551.3:c.-35_-34insTCCGACCCGCGGATCCCGCG
Links:
dbSNP: rs730882036
NCBI 1000 Genomes Browser:
rs730882036
Molecular consequence:
  • NM_000551.4:c.-54_-35dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354723.2:c.-54_-35dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_198156.3:c.-54_-35dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211830GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 16, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211830.2

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

Description

This duplication of 20 nucleotides is denoted VHL c.-35_-34insTCCGACCCGCGGATCCCGCG (aka c.-54_-35dup20), and describes a duplication upstream of the VHL ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence is CGCG{dup20}GCGT. This variant has not, to our knowledge, been published in the literature as either a mutation or a benign polymorphism and does not appear to affect the start codon or the Kozak translational consensus sequence. At this time, we consider VHL c.-54_-35dup20 to be a variant of unknown significance. The variant is found in MODRISK-HEREDICV3 panel(s).

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

Last Updated: Oct 13, 2024