NM_000551.4(VHL):c.640T>A (p.Ter214Arg) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Apr 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001025239.1

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]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001187392Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Apr 4, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001187392.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.640T>A variant (also known as p.*214REXT*14), located in coding exon 3 of the VHL gene, results from a T to A substitution at nucleotide position 640, which is the last nucleotide of the VHL gene. The stop codon at position 214 is replaced by Arginine, resulting in an elongation of the protein by 14 amino acids. Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of VHL and is not expected to trigger nonsense-mediated mRNA decay. The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 10, 2021

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