NM_000551.4(VHL):c.285G>A (p.Pro95=) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (2 submissions)
Last evaluated:: May 26, 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:: RCV002255927.3

Allele description [Variation Report for NM_000551.4(VHL):c.285G>A (p.Pro95=)]

NM_000551.4(VHL):c.285G>A (p.Pro95=)

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.285G>A (p.Pro95=)

HGVS:

NC_000003.12:g.10142132G>A
NG_008212.3:g.5498G>A
NM_000551.4:c.285G>AMANE SELECT
NM_001354723.2:c.285G>A
NM_198156.3:c.285G>A
NP_000542.1:p.Pro95=
NP_000542.1:p.Pro95=
NP_001341652.1:p.Pro95=
NP_937799.1:p.Pro95=
LRG_322t1:c.285G>A
LRG_322:g.5498G>A
LRG_322p1:p.Pro95=
NC_000003.11:g.10183816G>A
NM_000551.3:c.285G>A
NR_176335.1:n.355G>A

Links:

dbSNP: rs975432073

NCBI 1000 Genomes Browser:

rs975432073

Molecular consequence:

NR_176335.1:n.355G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000551.4:c.285G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354723.2:c.285G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_198156.3:c.285G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002534154	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely benign (Jul 9, 2021)	germline	curation	PubMed (5) [See all records that cite these PMIDs] 9829911, 27527340, 18067796, 30548481, 15709172 Citation Link,
SCV002749935	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (May 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002534154

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely benign
(Jul 9, 2021)

germline

curation

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV002749935

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(May 26, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, Pack S, Hurley K, Andrey C, Klausner R, Linehan WM.

Hum Mutat. 1998;12(6):417-23.

PubMed [citation]

PMID:: 9829911

Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

Wong M, Chu YH, Tan HL, Bessho H, Ngeow J, Tang T, Tan MH.

Chin J Cancer. 2016 Aug 15;35(1):79. doi: 10.1186/s40880-016-0141-z.

PubMed [citation]

PMID:: 27527340
PMCID:: PMC4986176

See all PubMed Citations (5)

Details of each submission

From Sema4, Sema4, SCV002534154.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (5)

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

From Ambry Genetics, SCV002749935.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024

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