NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer) AND Von Hippel-Lindau syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 6, 2023
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:: RCV003452626.1

Allele description [Variation Report for NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)]

NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)

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.555_557del (p.Tyr185_Glu186delinsTer)

HGVS:

NC_000003.12:g.10149878_10149880del
NG_008212.3:g.13244_13246del
NG_046756.1:g.7640_7642del
NM_000551.4:c.555_557delMANE SELECT
NM_001354723.2:c.*109_*111del
NM_198156.3:c.432_434del
NP_000542.1:p.Tyr185_Asp213del
NP_000542.1:p.Tyr185_Glu186delinsTer
NP_937799.1:p.Tyr144_Glu145delinsTer
LRG_322t1:c.555_557del
LRG_322:g.13244_13246del
LRG_322p1:p.Tyr185_Asp213del
NC_000003.11:g.10191562_10191564del
NM_000551.3:c.555_557delCGA
NR_176335.1:n.884_886del

Molecular consequence:

NM_001354723.2:c.*109_*111del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_176335.1:n.884_886del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000551.4:c.555_557del - nonsense - [Sequence Ontology: SO:0001587]
NM_198156.3:c.432_434del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004189840	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 6, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004189840

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Sep 6, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004189840.1

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: Dec 30, 2023

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