NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 25, 2016
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:: RCV000491559.4

Allele description [Variation Report for NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs)]

NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs)

Gene:

MEN1:menin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs)

HGVS:

NC_000011.10:g.64807627_64807630dup
NG_008929.1:g.8666_8669dup
NG_033040.1:g.613_616dup
NM_000244.4:c.721_724dup
NM_001370251.2:c.706_709dup
NM_001370259.2:c.706_709dupMANE SELECT
NM_001370260.2:c.706_709dup
NM_001370261.2:c.706_709dup
NM_001370262.2:c.601_604dup
NM_001370263.2:c.601_604dup
NM_130799.3:c.706_709dup
NM_130800.3:c.721_724dup
NM_130801.3:c.721_724dup
NM_130802.3:c.721_724dup
NM_130803.3:c.721_724dup
NM_130804.3:c.721_724dup
NP_000235.3:p.Ala242fs
NP_001357180.2:p.Ala237fs
NP_001357188.2:p.Ala237fs
NP_001357189.2:p.Ala237fs
NP_001357190.2:p.Ala237fs
NP_001357191.2:p.Ala202fs
NP_001357192.2:p.Ala202fs
NP_570711.2:p.Ala237fs
NP_570712.2:p.Ala242fs
NP_570713.2:p.Ala242fs
NP_570714.2:p.Ala242fs
NP_570715.2:p.Ala242fs
NP_570716.2:p.Ala242fs
LRG_509:g.8666_8669dup
NC_000011.9:g.64575099_64575102dup
NM_130799.2:c.706_709dupGTGG

Protein change:

A202fs

Links:

dbSNP: rs1114167534

NCBI 1000 Genomes Browser:

rs1114167534

Molecular consequence:

NM_000244.4:c.721_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370251.2:c.706_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370259.2:c.706_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370260.2:c.706_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370261.2:c.706_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370262.2:c.601_604dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370263.2:c.601_604dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130799.3:c.706_709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130800.3:c.721_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130801.3:c.721_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130802.3:c.721_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130803.3:c.721_724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130804.3:c.721_724dup - 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
SCV000579742	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579742

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 25, 2016)

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, SCV000579742.6

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

Description

The c.706_709dupGTGG pathogenic mutation, located in coding exon 3 of the MEN1 gene, results from a duplication of GTGG at nucleotide position 706, causing a translational frameshift with a predicted alternate stop codon. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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