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NM_000551.4(VHL):c.363dup (p.Ala122fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 28, 2018
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:
RCV001020780.3

Allele description [Variation Report for NM_000551.4(VHL):c.363dup (p.Ala122fs)]

NM_000551.4(VHL):c.363dup (p.Ala122fs)

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:
Duplication
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.363dup (p.Ala122fs)
HGVS:
  • NC_000003.12:g.10146536dup
  • NG_008212.3:g.9902dup
  • NG_046756.1:g.4298dup
  • NM_000551.4:c.363dupMANE SELECT
  • NM_001354723.2:c.*18-3251dup
  • NM_198156.3:c.341-3251dup
  • NP_000542.1:p.Ala122fs
  • LRG_322t1:c.363dup
  • LRG_322:g.9902dup
  • NC_000003.11:g.10188219_10188220insT
  • NC_000003.11:g.10188220dup
  • NM_000551.3:c.363dup
  • NM_000551.3:c.363dupT
Protein change:
A122fs
Links:
dbSNP: rs1575927767
NCBI 1000 Genomes Browser:
rs1575927767
Molecular consequence:
  • NM_000551.4:c.363dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.*18-3251dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3251dup - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001182304Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 28, 2018) 		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, SCV001182304.4

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

Description

The c.363dupT pathogenic mutation, located in coding exon 2 of the VHL gene, results from a duplication of T at nucleotide position 363, causing a translational frameshift with a predicted alternate stop codon (p.A122Cfs*10). 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: Sep 29, 2024