NM_000551.4(VHL):c.418_419insA (p.Leu140fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 13, 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:: RCV000492267.3

Allele description [Variation Report for NM_000551.4(VHL):c.418_419insA (p.Leu140fs)]

NM_000551.4(VHL):c.418_419insA (p.Leu140fs)

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:

Insertion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.4(VHL):c.418_419insA (p.Leu140fs)

HGVS:

NC_000003.12:g.10146591_10146592insA
NG_008212.3:g.9957_9958insA
NG_046756.1:g.4353_4354insA
NM_000551.4:c.418_419insAMANE SELECT
NM_001354723.2:c.*18-3196_*18-3195insA
NM_198156.3:c.341-3196_341-3195insA
NP_000542.1:p.Leu140fs
NP_000542.1:p.Leu140fs
LRG_322t1:c.418_419insA
LRG_322:g.9957_9958insA
LRG_322p1:p.Leu140fs
NC_000003.11:g.10188275_10188276insA
NM_000551.3:c.418_419insA

Protein change:

L140fs

Links:

dbSNP: rs1131690955

NCBI 1000 Genomes Browser:

rs1131690955

Molecular consequence:

NM_000551.4:c.418_419insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354723.2:c.*18-3196_*18-3195insA - intron variant - [Sequence Ontology: SO:0001627]
NM_198156.3:c.341-3196_341-3195insA - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000580957	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 13, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000580957

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 13, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000580957.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.418_419insA pathogenic mutation, located in coding exon 2 of the VHL gene, results from an insertion of one nucleotide at position 418, causing a translational frameshift with a predicted alternate stop codon (p.L140Hfs*4). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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