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NM_001370259.2(MEN1):c.1391dup (p.Ala465fs) AND Multiple endocrine neoplasia, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 17, 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:
RCV001386330.10

Allele description [Variation Report for NM_001370259.2(MEN1):c.1391dup (p.Ala465fs)]

NM_001370259.2(MEN1):c.1391dup (p.Ala465fs)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs)
HGVS:
  • NC_000011.10:g.64804776dup
  • NG_008929.1:g.11519dup
  • NG_033040.1:g.3466dup
  • NM_000244.4:c.1406dup
  • NM_001370251.2:c.1517dup
  • NM_001370259.2:c.1391dupMANE SELECT
  • NM_001370260.2:c.1391dup
  • NM_001370261.2:c.1391dup
  • NM_001370262.2:c.1286dup
  • NM_001370263.2:c.1286dup
  • NM_130799.3:c.1391dup
  • NM_130800.3:c.1406dup
  • NM_130801.3:c.1406dup
  • NM_130802.3:c.1406dup
  • NM_130803.3:c.1406dup
  • NM_130804.3:c.1406dup
  • NP_000235.3:p.Ala470fs
  • NP_001357180.2:p.Ala507fs
  • NP_001357188.2:p.Ala465fs
  • NP_001357189.2:p.Ala465fs
  • NP_001357190.2:p.Ala465fs
  • NP_001357191.2:p.Ala430fs
  • NP_001357192.2:p.Ala430fs
  • NP_570711.2:p.Ala465fs
  • NP_570712.2:p.Ala470fs
  • NP_570713.2:p.Ala470fs
  • NP_570714.2:p.Ala470fs
  • NP_570715.2:p.Ala470fs
  • NP_570716.2:p.Ala470fs
  • LRG_509:g.11519dup
  • NC_000011.9:g.64572247_64572248insG
  • NC_000011.9:g.64572248dup
Protein change:
A430fs
Links:
dbSNP: rs2136092746
NCBI 1000 Genomes Browser:
rs2136092746
Molecular consequence:
  • NM_000244.4:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370251.2:c.1517dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370259.2:c.1391dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370260.2:c.1391dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370261.2:c.1391dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370262.2:c.1286dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370263.2:c.1286dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130799.3:c.1391dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130800.3:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130801.3:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130802.3:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130803.3:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130804.3:c.1406dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Multiple endocrine neoplasia, type 1 (MEN1)
Synonyms:
MEA I; MEN I; Endocrine adenomatosis multiple; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007540; MeSH: D018761; MedGen: C0025267; Orphanet: 652; OMIM: 131100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001586520Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 17, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Direct binding of DNA by tumor suppressor menin.

La P, Silva AC, Hou Z, Wang H, Schnepp RW, Yan N, Shi Y, Hua X.

J Biol Chem. 2004 Nov 19;279(47):49045-54. Epub 2004 Aug 24.

PubMed [citation]
PMID:
15331604
PMCID:
PMC2858586

Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression.

La P, Desmond A, Hou Z, Silva AC, Schnepp RW, Hua X.

Oncogene. 2006 Jun 15;25(25):3537-46. Epub 2006 Jan 30.

PubMed [citation]
PMID:
16449969
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001586520.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MEN1 protein in which other variant(s) (p.Thr580Argfs*8) have been determined to be pathogenic (PMID: 15331604, 16449969). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1073347). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala465Glyfs*66) in the MEN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 146 amino acid(s) of the MEN1 protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024