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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 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:
RCV001025239.2

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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001187392Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 4, 2019) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH, Kim MJ, Kong SH, Kim SJ, Kang H, Shin CS, Park SS, Lee KE, Seong MW.

J Med Genet. 2022 Jan;59(1):56-64. doi: 10.1136/jmedgenet-2020-107102. Epub 2020 Nov 20.

PubMed [citation]
PMID:
33219105

Details of each submission

From Ambry Genetics, SCV001187392.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

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: Feb 28, 2024