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NM_000551.4(VHL):c.464-7_464-3del AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 2, 2023
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:
RCV003360625.2

Allele description [Variation Report for NM_000551.4(VHL):c.464-7_464-3del]

NM_000551.4(VHL):c.464-7_464-3del

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.464-7_464-3del
HGVS:
  • NC_000003.12:g.10149780_10149784del
  • NG_008212.3:g.13146_13150del
  • NG_046756.1:g.7542_7546del
  • NM_000551.4:c.464-7_464-3delMANE SELECT
  • NM_001354723.2:c.*18-7_*18-3del
  • NM_198156.3:c.341-7_341-3del
  • LRG_322t1:c.464-7_464-3del
  • LRG_322:g.13146_13150del
  • NC_000003.11:g.10191464_10191468del
  • NM_000551.3:c.464-7_464-3delCTTCC
Molecular consequence:
  • NM_000551.4:c.464-7_464-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354723.2:c.*18-7_*18-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-7_341-3del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004053363Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 2, 2023) 		germlineclinical testing

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 Ambry Genetics, SCV004053363.2

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

Description

The c.464-7_464-3delCTTCC intronic variant, located in intron 2 of the VHL gene, results from a deletion of 5 nucleotides within intron 2 of the VHL gene. This nucleotide region is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024