NM_000551.4(VHL):c.565del (p.Glu189fs) AND Von Hippel-Lindau syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 1, 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:: RCV000767295.1

Allele description [Variation Report for NM_000551.4(VHL):c.565del (p.Glu189fs)]

NM_000551.4(VHL):c.565del (p.Glu189fs)

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.565del (p.Glu189fs)

HGVS:

NC_000003.12:g.10149888del
NG_008212.3:g.13254del
NG_046756.1:g.7650del
NM_000551.4:c.565delMANE SELECT
NM_001354723.2:c.*119del
NM_198156.3:c.442del
NP_000542.1:p.Glu189fs
NP_937799.1:p.Glu148fs
LRG_322:g.13254del
NC_000003.11:g.10191572del
NM_000551.3:c.565delG

Protein change:

E148fs

Links:

dbSNP: rs1559429829

NCBI 1000 Genomes Browser:

rs1559429829

Molecular consequence:

NM_001354723.2:c.*119del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000551.4:c.565del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198156.3:c.442del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Von Hippel-Lindau syndrome (VHLS)
Synonyms:: VHL syndrome; Von Hippel-Lindau
Identifiers:: MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

Recent activity

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putative mitochondrial carnitine carrier protein [Eutypa lata UCREL1]
putative mitochondrial carnitine carrier protein [Eutypa lata UCREL1]
gi|471572553|gb|EMR70968.1||gnl|WGS |UCREL1_1992

Protein
Selenomonas dianae strain ATCC 43527 chromosome, complete genome
Selenomonas dianae strain ATCC 43527 chromosome, complete genome
gi|2557568019|gb|CP128650.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897853	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Likely pathogenic (Aug 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000897853

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Likely pathogenic
(Aug 1, 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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000897853.1

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

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

Last Updated: Aug 5, 2023

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