NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer) AND Von Hippel-Lindau syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 26, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000208833.1

Allele description [Variation Report for NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)]

NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)

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.189_192del (p.Arg64_Ser65insTer)

HGVS:

NC_000003.12:g.10142036_10142039del
NG_008212.3:g.5402_5405del
NM_000551.4:c.189_192delMANE SELECT
NM_001354723.2:c.189_192del
NM_198156.3:c.189_192del
NP_000542.1:p.Arg64_Ser65insTer
NP_001341652.1:p.Arg64_Ser65insTer
NP_937799.1:p.Arg64_Ser65insTer
LRG_322:g.5402_5405del
NC_000003.11:g.10183720_10183723del
NM_000551.3:c.189_192delGCGC
p.[Ser65*].

Links:

dbSNP: rs869025647

NCBI 1000 Genomes Browser:

rs869025647

Molecular consequence:

NM_000551.4:c.189_192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354723.2:c.189_192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198156.3:c.189_192del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264731	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	no assertion criteria provided	Pathogenic (Feb 26, 2016)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264731

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

no assertion criteria provided

Pathogenic
(Feb 26, 2016)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	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, SCV000264731.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	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		4	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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