NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) AND Von Hippel-Lindau syndrome

Clinical significance:Uncertain significance (Last evaluated: Feb 26, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208847.1

Allele description [Variation Report for NM_000551.3(VHL):c.293A>C (p.Tyr98Ser)]

NM_000551.3(VHL):c.293A>C (p.Tyr98Ser)

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser)
HGVS:
  • NC_000003.12:g.10142140A>C
  • NG_008212.3:g.5506A>C
  • NM_000551.3:c.293A>C
  • NM_001354723.2:c.293A>C
  • NM_198156.3:c.293A>C
  • NP_000542.1:p.Tyr98Ser
  • NP_001341652.1:p.Tyr98Ser
  • NP_937799.1:p.Tyr98Ser
  • LRG_322t1:c.293A>C
  • LRG_322:g.5506A>C
  • LRG_322p1:p.Tyr98Ser
  • NC_000003.11:g.10183824A>C
  • p.[Tyr98Ser]
Protein change:
Y98S
Links:
dbSNP: rs864321643
NCBI 1000 Genomes Browser:
rs864321643
Molecular consequence:
  • NM_000551.3:c.293A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.293A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.293A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

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
SCV000264697Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiano assertion criteria providedUncertain significance
(Feb 26, 2016)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000264697.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: May 10, 2021

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