NM_000551.4(VHL):c.426del (p.Asp143fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 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:
RCV002330016.2

Allele description [Variation Report for NM_000551.4(VHL):c.426del (p.Asp143fs)]

NM_000551.4(VHL):c.426del (p.Asp143fs)

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:
Deletion
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.426del (p.Asp143fs)
HGVS:
  • NC_000003.12:g.10146599del
  • NG_008212.3:g.9965del
  • NG_046756.1:g.4361del
  • NM_000551.4:c.426delMANE SELECT
  • NM_001354723.2:c.*18-3188del
  • NM_198156.3:c.341-3188del
  • NP_000542.1:p.Asp143Thrfs
  • NP_000542.1:p.Asp143fs
  • LRG_322t1:c.426del
  • LRG_322:g.9965del
  • LRG_322p1:p.Asp143Thrfs
  • NC_000003.11:g.10188283del
  • NM_000551.3:c.426delT
  • NR_176335.1:n.755delT
Protein change:
D143fs
Molecular consequence:
  • NM_000551.4:c.426del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.*18-3188del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3188del - 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
SCV002627808Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 30, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002627808.2

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

Description

The c.426delT pathogenic mutation, located in coding exon 2 of the VHL gene, results from a deletion of one nucleotide at nucleotide position 426, causing a translational frameshift with a predicted alternate stop codon (p.D143Tfs*16). 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