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NM_000551.4(VHL):c.341-21_341-19del AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 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:
RCV000586656.1

Allele description [Variation Report for NM_000551.4(VHL):c.341-21_341-19del]

NM_000551.4(VHL):c.341-21_341-19del

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:
Microsatellite
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.341-21_341-19del
HGVS:
  • NC_000003.12:g.10146490AAC[1]
  • NG_008212.3:g.9856AAC[1]
  • NG_046756.1:g.4252AAC[1]
  • NM_000551.4:c.341-21_341-19delMANE SELECT
  • NM_001354723.2:c.*18-3294_*18-3292del
  • NM_198156.3:c.341-3294_341-3292del
  • LRG_322:g.9856AAC[1]
  • NC_000003.11:g.10188174AAC[1]
  • NM_000551.3:c.341-21_341-19delAAC
Links:
dbSNP: rs779747717
NCBI 1000 Genomes Browser:
rs779747717
Molecular consequence:
  • NM_000551.4:c.341-21_341-19del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354723.2:c.*18-3294_*18-3292del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3294_341-3292del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000697501Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 31, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697501.1

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

Description

Variant summary: The VHL c.341-21_341-19delAAC variant involves the deletion of intronic nucleotides. Mutation taster predicts a damaging outcome for this variant while 5/5 splice site tools predict the variant not to have an impact on normal splicing. This variant was found in 2/121396 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic VHL variant (0.0000208). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Nov 5, 2022