NM_000551.4(VHL):c.640T>A (p.Ter214Arg) AND Von Hippel-Lindau syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987111.1

Allele description [Variation Report for NM_000551.4(VHL):c.640T>A (p.Ter214Arg)]

NM_000551.4(VHL):c.640T>A (p.Ter214Arg)

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.640T>A (p.Ter214Arg)
Other names:
*214R; *173R
HGVS:
  • NC_000003.12:g.10149963T>A
  • NG_008212.3:g.13329T>A
  • NG_046756.1:g.7725T>A
  • NM_000551.4:c.640T>AMANE SELECT
  • NM_001354723.2:c.*194T>A
  • NM_198156.3:c.517T>A
  • NP_000542.1:p.Ter214Arg
  • NP_937799.1:p.Ter173Arg
  • LRG_322t1:c.640T>A
  • LRG_322:g.13329T>A
  • NC_000003.11:g.10191647T>A
  • NM_000551.3:c.640T>A
Links:
dbSNP: rs1575932781
NCBI 1000 Genomes Browser:
rs1575932781
Molecular consequence:
  • NM_001354723.2:c.*194T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.640T>A - stop lost - [Sequence Ontology: SO:0001578]
  • NM_198156.3:c.517T>A - stop lost - [Sequence Ontology: SO:0001578]

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
SCV001136315Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001136315.1

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

Last Updated: May 10, 2021

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