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NM_000551.4(VHL):c.-61_-51dup AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 27, 2021
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:
RCV002255477.2

Allele description

NM_000551.4(VHL):c.-61_-51dup

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.-61_-51dup
HGVS:
  • NC_000003.11:g.10183466_10183467insTCCGCCCCGCG
  • NC_000003.12:g.10141787_10141797dup
  • NG_008212.3:g.5153_5163dup
  • NM_000551.4:c.-61_-51dupMANE SELECT
  • NM_001354723.2:c.-61_-51dup
  • NM_198156.3:c.-61_-51dup
  • LRG_322t1:c.-61_-51dup
  • LRG_322:g.5153_5163dup
  • NC_000003.11:g.10183466_10183467insTCCGCCCCGCG
  • NC_000003.11:g.10183471_10183481dup
  • NC_000003.11:g.10183481_10183482insCCCCGCGTCCG
  • NM_000551.2:c.-61_-51dup
  • NM_000551.3:c.-61_-51dup
Links:
dbSNP: rs727503743
NCBI 1000 Genomes Browser:
rs727503743
Molecular consequence:
  • NM_000551.4:c.-61_-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354723.2:c.-61_-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_198156.3:c.-61_-51dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002534196Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Nov 27, 2021) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.

Albanyan S, Giles RH, Gimeno EM, Silver J, Murphy J, Faghfoury H, Morel CF, Machado J, Kim RH.

Eur J Med Genet. 2019 Mar;62(3):177-181. doi: 10.1016/j.ejmg.2018.07.006. Epub 2018 Jul 10.

PubMed [citation]
PMID:
30006056

Details of each submission

From Sema4, Sema4, SCV002534196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024