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NM_000551.4(VHL):c.286C>T (p.Gln96Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 28, 2021
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:
RCV000492143.3

Allele description [Variation Report for NM_000551.4(VHL):c.286C>T (p.Gln96Ter)]

NM_000551.4(VHL):c.286C>T (p.Gln96Ter)

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.286C>T (p.Gln96Ter)
HGVS:
  • NC_000003.12:g.10142133C>T
  • NG_008212.3:g.5499C>T
  • NM_000551.4:c.286C>TMANE SELECT
  • NM_001354723.2:c.286C>T
  • NM_198156.3:c.286C>T
  • NP_000542.1:p.Gln96Ter
  • NP_000542.1:p.Gln96Ter
  • NP_001341652.1:p.Gln96Ter
  • NP_937799.1:p.Gln96Ter
  • LRG_322t1:c.286C>T
  • LRG_322:g.5499C>T
  • LRG_322p1:p.Gln96Ter
  • NC_000003.11:g.10183817C>T
  • NM_000551.3:c.286C>T
Protein change:
Q96*
Links:
dbSNP: rs1131690959
NCBI 1000 Genomes Browser:
rs1131690959
Molecular consequence:
  • NM_000551.4:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354723.2:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198156.3:c.286C>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
SCV000580982Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 28, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease.

Wu J, Wang H, Ricketts CJ, Yang Y, Merino MJ, Zhang H, Shi G, Gan H, Linehan WM, Zhu Y, Ye D.

Cancer. 2019 Apr 1;125(7):1060-1069. doi: 10.1002/cncr.31908. Epub 2018 Dec 12.

PubMed [citation]
PMID:
30548481
PMCID:
PMC8201926

Details of each submission

From Ambry Genetics, SCV000580982.6

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

Description

The p.Q96* pathogenic mutation (also known as c.286C>T), located in coding exon 1 of the VHL gene, results from a C to T substitution at nucleotide position 286. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This variant was identified in 1/190 unrelated Chinese patients under the age of 45 who presented with renal tumors (Wu J et al. Cancer, 2019 04;125:1060-1069). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024