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NM_000551.4(VHL):c.280G>T (p.Glu94Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV000708631.2

Allele description [Variation Report for NM_000551.4(VHL):c.280G>T (p.Glu94Ter)]

NM_000551.4(VHL):c.280G>T (p.Glu94Ter)

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.280G>T (p.Glu94Ter)
HGVS:
  • NC_000003.12:g.10142127G>T
  • NG_008212.3:g.5493G>T
  • NM_000551.4:c.280G>TMANE SELECT
  • NM_001354723.2:c.280G>T
  • NM_198156.3:c.280G>T
  • NP_000542.1:p.Glu94Ter
  • NP_000542.1:p.Glu94Ter
  • NP_001341652.1:p.Glu94Ter
  • NP_937799.1:p.Glu94Ter
  • LRG_322t1:c.280G>T
  • LRG_322:g.5493G>T
  • LRG_322p1:p.Glu94Ter
  • NC_000003.11:g.10183811G>T
  • NM_000551.3:c.280G>T
Protein change:
E94*
Links:
dbSNP: rs5030829
NCBI 1000 Genomes Browser:
rs5030829
Molecular consequence:
  • NM_000551.4:c.280G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354723.2:c.280G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198156.3:c.280G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000821788GeneKor MSA
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneKor MSA, SCV000821788.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is a single amino acid change from Glutamate to a premature translational stop signal at codon 94 of the VHL protein. This is expected to result in an absent or disrupted protein product.. This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). The mutation database ClinVar contains entries for this variant (Variation ID: 584477).

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

Last Updated: Mar 5, 2024