NM_000551.3(VHL):c.356_357insGG (p.Phe119fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000494175.1

Allele description [Variation Report for NM_000551.3(VHL):c.356_357insGG (p.Phe119fs)]

NM_000551.3(VHL):c.356_357insGG (p.Phe119fs)

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:
Insertion
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.3(VHL):c.356_357insGG (p.Phe119fs)
HGVS:
  • NC_000003.12:g.10146529_10146530insGG
  • NG_008212.3:g.9895_9896insGG
  • NG_046756.1:g.4291_4292insGG
  • NM_000551.3:c.356_357insGG
  • NM_001354723.2:c.18-3258_18-3257insGG
  • NM_198156.3:c.341-3258_341-3257insGG
  • NP_000542.1:p.Phe119fs
  • LRG_322t1:c.356_357insGG
  • LRG_322:g.9895_9896insGG
  • LRG_322p1:p.Phe119fs
  • NC_000003.11:g.10188213_10188214insGG
Protein change:
F119fs
Links:
dbSNP: rs1131691526
NCBI 1000 Genomes Browser:
rs1131691526
Molecular consequence:
  • NM_000551.3:c.356_357insGG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.18-3258_18-3257insGG - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3258_341-3257insGG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000582304GeneDxcriteria provided, single submitter
Likely pathogenic
(May 15, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582304.4

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

Description

The c.356_357insGG variant in the VHL gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This insertion causes a frameshift starting with codon Phenylalanine 119, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 41 of the new reading frame, denoted p.Phe119LeufsX41. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, c.356_357insGG is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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

Last Updated: Feb 27, 2021

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