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NM_000551.4(VHL):c.610G>T (p.Glu204Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 4, 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:
RCV002358758.2

Allele description [Variation Report for NM_000551.4(VHL):c.610G>T (p.Glu204Ter)]

NM_000551.4(VHL):c.610G>T (p.Glu204Ter)

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.610G>T (p.Glu204Ter)
Other names:
NM_000551.4(VHL):c.610G>T; p.Glu204Ter
HGVS:
  • NC_000003.12:g.10149933G>T
  • NG_008212.3:g.13299G>T
  • NG_046756.1:g.7695G>T
  • NM_000551.4:c.610G>TMANE SELECT
  • NM_001354723.2:c.*164G>T
  • NM_198156.3:c.487G>T
  • NP_000542.1:p.Glu204Ter
  • NP_000542.1:p.Glu204Ter
  • NP_937799.1:p.Glu163Ter
  • LRG_322t1:c.610G>T
  • LRG_322:g.13299G>T
  • LRG_322p1:p.Glu204Ter
  • NC_000003.11:g.10191617G>T
  • NM_000551.3:c.610G>T
Protein change:
E163*
Links:
dbSNP: rs758853661
NCBI 1000 Genomes Browser:
rs758853661
Molecular consequence:
  • NM_001354723.2:c.*164G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.610G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198156.3:c.487G>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
SCV002660520Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 4, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002660520.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E204* variant (also known as c.610G>T), located in coding exon 3 of the VHL gene, results from a G to T substitution at nucleotide position 610. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This alteration occurs at the 3' terminus of VHL gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 10 amino acids of the protein. The exact functional effect of this alteration is unknown. This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024