NM_000551.4(VHL):c.500G>C (p.Arg167Pro) AND Von Hippel-Lindau syndrome

Clinical significance:Likely pathogenic (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000767282.1

Allele description [Variation Report for NM_000551.4(VHL):c.500G>C (p.Arg167Pro)]

NM_000551.4(VHL):c.500G>C (p.Arg167Pro)

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:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)
HGVS:
  • NC_000003.12:g.10149823G>C
  • NG_008212.3:g.13189G>C
  • NG_046756.1:g.7585G>C
  • NM_000551.3:c.500G>C
  • NM_000551.4:c.500G>CMANE SELECT
  • NM_001354723.2:c.*54G>C
  • NM_198156.3:c.377G>C
  • NP_000542.1:p.Arg167Pro
  • NP_000542.1:p.Arg167Pro
  • NP_937799.1:p.Arg126Pro
  • LRG_322t1:c.500G>C
  • LRG_322:g.13189G>C
  • LRG_322p1:p.Arg167Pro
  • NC_000003.11:g.10191507G>C
Protein change:
R126P
Links:
dbSNP: rs5030821
NCBI 1000 Genomes Browser:
rs5030821
Molecular consequence:
  • NM_001354723.2:c.*54G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.500G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000551.4:c.500G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.377G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000897840Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Likely pathogenic
(Aug 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000897840.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 25, 2021

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