NM_000551.3(VHL):c.238A>G (p.Ser80Gly) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 4, 2014
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:: RCV000165774.2

Allele description

NM_000551.3(VHL):c.238A>G (p.Ser80Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.3(VHL):c.238A>G (p.Ser80Gly)

HGVS:

NC_000003.12:g.10142085A>G
NG_008212.3:g.5451A>G
NM_000551.3:c.238A>G
NM_001354723.2:c.238A>G
NM_198156.3:c.238A>G
NP_000542.1:p.Ser80Gly
NP_001341652.1:p.Ser80Gly
NP_937799.1:p.Ser80Gly
LRG_322t1:c.238A>G
LRG_322:g.5451A>G
LRG_322p1:p.Ser80Gly
NC_000003.11:g.10183769A>G
p.S80G

Protein change:

S80G

Links:

dbSNP: rs786202787

NCBI 1000 Genomes Browser:

rs786202787

Molecular consequence:

NM_000551.3:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MONDO: MONDO:0015356; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000216519	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Likely pathogenic (Sep 4, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000216519

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Likely pathogenic
(Sep 4, 2014)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Genetic testing for cancer predisposition.

Eng C, Hampel H, de la Chapelle A.

Annu Rev Med. 2001;52:371-400. Review. Erratum in: Annu Rev Med 2002;53:xi.

PubMed [citation]

PMID:: 11160785

Details of each submission

From Ambry Genetics, SCV000216519.4

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

Description

Other strong data supporting pathogenic classification;Well-characterized mutation at same position;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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

Last Updated: Apr 18, 2020

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