NM_000551.4(VHL):c.212_213dup (p.Ser72fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 20, 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:: RCV002417613.2

Allele description [Variation Report for NM_000551.4(VHL):c.212_213dup (p.Ser72fs)]

NM_000551.4(VHL):c.212_213dup (p.Ser72fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.4(VHL):c.212_213dup (p.Ser72fs)

HGVS:

NC_000003.12:g.10142059_10142060dup
NG_008212.3:g.5425_5426dup
NM_000551.4:c.212_213dupMANE SELECT
NM_001354723.2:c.212_213dup
NM_198156.3:c.212_213dup
NP_000542.1:p.Ser72Profs
NP_000542.1:p.Ser72fs
NP_001341652.1:p.Ser72fs
NP_937799.1:p.Ser72fs
LRG_322t1:c.212_213dup
LRG_322:g.5425_5426dup
LRG_322p1:p.Ser72Profs
NC_000003.11:g.10183743_10183744dup
NM_000551.3:c.212_213dup
NM_000551.3:c.212_213dupCC
NR_176335.1:n.282_283dup

Protein change:

S72fs

Molecular consequence:

NM_000551.4:c.212_213dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354723.2:c.212_213dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198156.3:c.212_213dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002727090	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 20, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002727090

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 20, 2014)

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, SCV002727090.2

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

Description

The c.212_213dupCC pathogenic mutation, located in coding exon 1 of the VHL gene, results from a duplication of CC at nucleotide position 212, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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: May 1, 2024

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