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NM_001370259.2(MEN1):c.432del (p.Phe144fs) AND Multiple endocrine neoplasia, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 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:
RCV003517198.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.432del (p.Phe144fs)]

NM_001370259.2(MEN1):c.432del (p.Phe144fs)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.432del (p.Phe144fs)
HGVS:
  • NC_000011.10:g.64809678del
  • NG_008929.1:g.6617del
  • NM_000244.4:c.432del
  • NM_001370251.2:c.432del
  • NM_001370259.2:c.432delMANE SELECT
  • NM_001370260.2:c.432del
  • NM_001370261.2:c.432del
  • NM_001370262.2:c.432del
  • NM_001370263.2:c.432del
  • NM_130799.3:c.432del
  • NM_130800.3:c.432del
  • NM_130801.3:c.432del
  • NM_130802.3:c.432del
  • NM_130803.3:c.432del
  • NM_130804.3:c.432del
  • NP_000235.3:p.Phe144fs
  • NP_001357180.2:p.Phe144fs
  • NP_001357188.2:p.Phe144fs
  • NP_001357189.2:p.Phe144fs
  • NP_001357190.2:p.Phe144fs
  • NP_001357191.2:p.Phe144fs
  • NP_001357192.2:p.Phe144fs
  • NP_570711.2:p.Phe144fs
  • NP_570712.2:p.Phe144fs
  • NP_570713.2:p.Phe144fs
  • NP_570714.2:p.Phe144fs
  • NP_570715.2:p.Phe144fs
  • NP_570716.2:p.Phe144fs
  • LRG_509:g.6617del
  • NC_000011.9:g.64577150del
  • NM_130799.2:c.432delC
Protein change:
F144fs
Links:
dbSNP: rs1064793613
NCBI 1000 Genomes Browser:
rs1064793613
Molecular consequence:
  • NM_000244.4:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370251.2:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370259.2:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370260.2:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370261.2:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370262.2:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370263.2:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130799.3:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130800.3:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130801.3:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130802.3:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130803.3:c.432del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130804.3:c.432del - 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

Recent activity

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  • membrane-associated kinase regulator [Arabidopsis thaliana]
    membrane-associated kinase regulator [Arabidopsis thaliana]
    gi|15239627|ref|NP_197995.1|
    Protein
  • Infarction
    Infarction
    Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS....<br/>
    MeSH
  • D007238 (1)
    MeSH
  • SRX257604 (1)
    SRA
  • Acupuncture Therapy
    Acupuncture Therapy
    Treatment of disease by inserting needles along specific pathways or meridians. The placement varies with the disease being treated. It is sometimes used in conjunction with h...<br/>Year introduced: 1990
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004252963Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 27, 2023) 		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

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Béroud C, Calender A.

Hum Mutat. 2002 Jul;20(1):35-47.

PubMed [citation]
PMID:
12112656

Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1.

Schaaf L, Pickel J, Zinner K, Hering U, Höfler M, Goretzki PE, Spelsberg F, Raue F, von zur Mühlen A, Gerl H, Hensen J, Bartsch DK, Rothmund M, Schneyer U, Dralle H, Engelbach M, Karges W, Stalla GK, Höppner W.

Exp Clin Endocrinol Diabetes. 2007 Sep;115(8):509-17.

PubMed [citation]
PMID:
17853334
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004252963.1

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

Description

This sequence change creates a premature translational stop signal (p.Phe144Leufs*41) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 419057). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024