NM_000551.4(VHL):c.385C>T (p.Leu129=) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 5, 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:: RCV002358438.3

Allele description [Variation Report for NM_000551.4(VHL):c.385C>T (p.Leu129=)]

NM_000551.4(VHL):c.385C>T (p.Leu129=)

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:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.4(VHL):c.385C>T (p.Leu129=)

HGVS:

NC_000003.12:g.10146558C>T
NG_008212.3:g.9924C>T
NG_046756.1:g.4320C>T
NM_000551.4:c.385C>TMANE SELECT
NM_001354723.2:c.*18-3229C>T
NM_198156.3:c.341-3229C>T
NP_000542.1:p.Leu129=
NP_000542.1:p.Leu129=
LRG_322t1:c.385C>T
LRG_322:g.9924C>T
LRG_322p1:p.Leu129=
NC_000003.11:g.10188242C>T
NM_000551.3:c.385C>T

Links:

dbSNP: rs369018004

NCBI 1000 Genomes Browser:

rs369018004

Molecular consequence:

NM_001354723.2:c.*18-3229C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_198156.3:c.341-3229C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000551.4:c.385C>T - 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
SCV002619975	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002619975

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 5, 2023)

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

Details of each submission

From Ambry Genetics, SCV002619975.3

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

Description

The c.385C>T variant (also known as p.L129L), located in coding exon 2 of the VHL gene, results from a C to T substitution at nucleotide position 385. This nucleotide substitution does not change the leucine at codon 129. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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