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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001136315Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

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: Sep 29, 2024