NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3]) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 27, 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:: RCV002388739.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3])]

NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3])

Gene:

MEN1:menin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3])

HGVS:

NC_000011.10:g.64804767GCCTCGGCC[3]
NC_000011.9:g.64572248_64572256dup
NG_008929.1:g.11511GGCCGAGGC[3]
NG_033040.1:g.3458GGCCGAGGC[3]
NM_000244.4:c.1398GGCCGAGGC[3]
NM_001370251.2:c.1509GGCCGAGGC[3]
NM_001370259.2:c.1383GGCCGAGGC[3]MANE SELECT
NM_001370260.2:c.1383GGCCGAGGC[3]
NM_001370261.2:c.1383GGCCGAGGC[3]
NM_001370262.2:c.1278GGCCGAGGC[3]
NM_001370263.2:c.1278GGCCGAGGC[3]
NM_130799.3:c.1383GGCCGAGGC[3]
NM_130800.3:c.1398GGCCGAGGC[3]
NM_130801.3:c.1398GGCCGAGGC[3]
NM_130802.3:c.1398GGCCGAGGC[3]
NM_130803.3:c.1398GGCCGAGGC[3]
NM_130804.3:c.1398GGCCGAGGC[3]
NP_000235.3:p.467AEA[3]
NP_001357180.2:p.504AEA[3]
NP_001357188.2:p.462AEA[3]
NP_001357189.2:p.462AEA[3]
NP_001357190.2:p.462AEA[3]
NP_001357191.2:p.427AEA[3]
NP_001357192.2:p.427AEA[3]
NP_570711.2:p.462AEA[3]
NP_570712.2:p.467AEA[3]
NP_570713.2:p.467AEA[3]
NP_570714.2:p.467AEA[3]
NP_570715.2:p.467AEA[3]
NP_570716.2:p.467AEA[3]
LRG_509t2:c.1392_1400dup
LRG_509:g.11511GGCCGAGGC[3]
NC_000011.9:g.64572238_64572239insGCCTCGGCC
NC_000011.9:g.64572239GCCTCGGCC[3]
NC_000011.9:g.64572248_64572256dup
NM_130799.2:c.1392_1400dupGGCCGAGGC

Links:

dbSNP: rs772978541

NCBI 1000 Genomes Browser:

rs772978541

Molecular consequence:

NM_000244.4:c.1398GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370251.2:c.1509GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370259.2:c.1383GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370260.2:c.1383GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370261.2:c.1383GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370262.2:c.1278GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001370263.2:c.1278GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130799.3:c.1383GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130800.3:c.1398GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130801.3:c.1398GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130802.3:c.1398GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130803.3:c.1398GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130804.3:c.1398GGCCGAGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV002700091	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002700091

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 27, 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, SCV002700091.2

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

Description

The c.1392_1400dupGGCCGAGGC variant (also known as p.A465_A467dup), located in coding exon 9 of the MEN1 gene, results from an in-frame duplication of GGCCGAGGC at nucleotide positions 1392 to 1400. This results in the duplication of 3 extra residues (AEA) between codons 465 and 467. These amino acid positions are 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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