NM_000551.4(VHL):c.393_394dup (p.Gln132fs) AND Von Hippel-Lindau syndrome

Germline classification:: 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:: RCV000767265.1

Allele description [Variation Report for NM_000551.4(VHL):c.393_394dup (p.Gln132fs)]

NM_000551.4(VHL):c.393_394dup (p.Gln132fs)

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.393_394dup (p.Gln132fs)

HGVS:

NC_000003.12:g.10146566_10146567dup
NG_008212.3:g.9932_9933dup
NG_046756.1:g.4328_4329dup
NM_000551.4:c.393_394dupMANE SELECT
NM_001354723.2:c.*18-3221_*18-3220dup
NM_198156.3:c.341-3221_341-3220dup
NP_000542.1:p.Gln132fs
LRG_322:g.9932_9933dup
NC_000003.11:g.10188250_10188251dup
NM_000551.3:c.393_394dupCC

Protein change:

Q132fs

Links:

dbSNP: rs1559428128

NCBI 1000 Genomes Browser:

rs1559428128

Molecular consequence:

NM_000551.4:c.393_394dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354723.2:c.*18-3221_*18-3220dup - intron variant - [Sequence Ontology: SO:0001627]
NM_198156.3:c.341-3221_341-3220dup - intron variant - [Sequence Ontology: SO:0001627]

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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nuclear nucleic acid-binding protein C1D isoform X1 [Anas platyrhynchos]
nuclear nucleic acid-binding protein C1D isoform X1 [Anas platyrhynchos]
gi|514769717|ref|XP_005025224.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897816	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Pathogenic (Aug 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000897816

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

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Pathogenic
(Aug 1, 2018)

germline

clinical testing

Citation Link

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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, SCV000897816.1

#	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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