NM_000551.4(VHL):c.242C>T (p.Pro81Leu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 13, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001547784.20

Allele description

NM_000551.4(VHL):c.242C>T (p.Pro81Leu)

Gene:

VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.4(VHL):c.242C>T (p.Pro81Leu)

HGVS:

NC_000003.12:g.10142089C>T
NG_008212.3:g.5455C>T
NM_000551.4:c.242C>TMANE SELECT
NM_001354723.2:c.242C>T
NM_198156.3:c.242C>T
NP_000542.1:p.Pro81Leu
NP_000542.1:p.Pro81Leu
NP_001341652.1:p.Pro81Leu
NP_937799.1:p.Pro81Leu
LRG_322t1:c.242C>T
LRG_322:g.5455C>T
LRG_322p1:p.Pro81Leu
NC_000003.11:g.10183773C>T
NM_000551.3:c.242C>T
p.P81L
p.[Pro81Leu]

Protein change:

P81L

Links:

dbSNP: rs193922608

NCBI 1000 Genomes Browser:

rs193922608

Molecular consequence:

NM_000551.4:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001767572	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Apr 13, 2022)	germline	clinical testing	Citation Link,
SCV002496778	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Feb 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001767572

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Apr 13, 2022)

germline

clinical testing

Citation Link,

SCV002496778

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Feb 1, 2022)

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 GeneDx, SCV001767572.3

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

Description

Observed in individuals with isolated pheochromocytoma and/or paraganglioma and no other features of von Hippel Lindau syndrome (Castellano 2006, Piccini 2012, Kim 2014, ClinVar SCV000553390.2); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as c.455C>T, p.Pro152Leu, and p.Pro122Leu; This variant is associated with the following publications: (PMID: 24446253, 27730413, 29946849, 22241717, 17102082, 24134185, 21389259, 31589614)

#	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		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002496778.16

#	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: Sep 8, 2024

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