NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 22, 2022
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:: RCV001009648.4

Allele description [Variation Report for NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu)]

NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu)

Gene:

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

Variant type:

Indel

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu)

HGVS:

NC_000003.12:g.10141857_10141858delinsTT
NG_008212.3:g.5223_5224delinsTT
NM_000551.4:c.10_11delinsTTMANE SELECT
NM_001354723.2:c.10_11delinsTT
NM_198156.3:c.10_11delinsTT
NP_000542.1:p.Arg4Leu
NP_001341652.1:p.Arg4Leu
NP_937799.1:p.Arg4Leu
LRG_322t1:c.10_11delAGinsTT
LRG_322:g.5223_5224delinsTT
NC_000003.11:g.10183541_10183542delinsTT
NC_000003.11:g.10183541_10183542delinsTT
NM_000551.3:c.10_11delAGinsTT

Protein change:

R4L

Links:

dbSNP: rs1575920840

NCBI 1000 Genomes Browser:

rs1575920840

Molecular consequence:

NM_000551.4:c.10_11delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.10_11delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.10_11delinsTT - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001169741	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001169741

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 22, 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

Details of each submission

From Ambry Genetics, SCV001169741.5

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

Description

The c.10_11delAGinsTT variant, located in coding exon 1 of the VHL gene, results from an in-frame deletion of AG and insertion of TT at nucleotide positions 10 to 11. This results in the substitution of the arginine residue for a leucine residue at codon 4, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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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