U.S. flag

An official website of the United States government

NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs) AND Multiple endocrine neoplasia, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 9, 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:
RCV002811383.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)]

NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)
HGVS:
  • NC_000011.10:g.64804787_64804788insGGCCTCGGCCTCT
  • NG_008929.1:g.11508_11519AG[2]GCCGAGGCCAGAGGCCGAGGC[1]
  • NG_033040.1:g.3455_3466AG[2]GCCGAGGCCAGAGGCCGAGGC[1]
  • NG_033040.2:g.3427_3438AG[2]GCCGAGGCCAGAGGCCGAGGC[1]
  • NM_000244.4:c.1406_1407insCAGAGGCCGAGGC
  • NM_001370251.2:c.1517_1518insCAGAGGCCGAGGC
  • NM_001370259.2:c.1391_1392insCAGAGGCCGAGGCMANE SELECT
  • NM_001370260.2:c.1391_1392insCAGAGGCCGAGGC
  • NM_001370261.2:c.1391_1392insCAGAGGCCGAGGC
  • NM_001370262.2:c.1286_1287insCAGAGGCCGAGGC
  • NM_001370263.2:c.1286_1287insCAGAGGCCGAGGC
  • NM_001407142.1:c.1505_1506insAGAGGCCGAGGCC
  • NM_001407143.1:c.1505_1506insAGAGGCCGAGGCC
  • NM_001407144.1:c.1505_1506insAGAGGCCGAGGCC
  • NM_001407145.1:c.1394_1395insAGAGGCCGAGGCC
  • NM_001407146.1:c.1379_1380insAGAGGCCGAGGCC
  • NM_001407147.1:c.1379_1380insAGAGGCCGAGGCC
  • NM_001407148.1:c.1274_1275insAGAGGCCGAGGCC
  • NM_001407149.1:c.1274_1275insAGAGGCCGAGGCC
  • NM_001407150.1:c.1520_1521insAGAGGCCGAGGCC
  • NM_001407151.1:c.1400_1401insAGAGGCCGAGGCC
  • NM_001407152.1:c.1214_1215insAGAGGCCGAGGCC
  • NM_130799.3:c.1391_1392insCAGAGGCCGAGGC
  • NM_130800.3:c.1406_1407insCAGAGGCCGAGGC
  • NM_130801.3:c.1406_1407insCAGAGGCCGAGGC
  • NM_130802.3:c.1406_1407insCAGAGGCCGAGGC
  • NM_130803.3:c.1406_1407insCAGAGGCCGAGGC
  • NM_130804.3:c.1406_1407insCAGAGGCCGAGGC
  • NP_000235.2:p.Ala470Argfs
  • 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_001394071.1:p.Ala507Argfs
  • NP_001394072.1:p.Ala507Argfs
  • NP_001394073.1:p.Ala507Argfs
  • NP_001394074.1:p.Ala470Argfs
  • NP_001394075.1:p.Ala465Argfs
  • NP_001394076.1:p.Ala465Argfs
  • NP_001394077.1:p.Ala430Argfs
  • NP_001394078.1:p.Ala430Argfs
  • NP_001394079.1:p.Ala512Argfs
  • NP_001394080.1:p.Ala472Argfs
  • NP_001394081.1:p.Ala410Argfs
  • NP_570711.1:p.Ala465Argfs
  • 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_509t1:c.1394_1395insAGAGGCCGAGGCC
  • LRG_509t2:c.1379_1380insAGAGGCCGAGGCC
  • LRG_509:g.11508_11519AG[2]GCCGAGGCCAGAGGCCGAGGC[1]
  • LRG_509p1:p.Ala470Argfs
  • LRG_509p2:p.Ala465Argfs
  • NC_000011.9:g.64572247_64572248insGCCTCGGCCTCTG
  • NC_000011.9:g.64572259_64572260insGGCCTCGGCCTCT
  • NM_000244.3:c.1394_1395insAGAGGCCGAGGCC
  • NM_130799.2:c.1379_1380insAGAGGCCGAGGCC
  • NR_176284.1:n.1577_1578insAGAGGCCGAGGCC
  • NR_176285.1:n.1589_1590insAGAGGCCGAGGCC
  • NR_176286.1:n.1592_1593insAGAGGCCGAGGCC
  • NR_176287.1:n.1850_1851insAGAGGCCGAGGCC
Protein change:
A430fs
Molecular consequence:
  • NM_000244.4:c.1406_1407insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370251.2:c.1517_1518insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370259.2:c.1391_1392insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370260.2:c.1391_1392insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370261.2:c.1391_1392insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370262.2:c.1286_1287insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370263.2:c.1286_1287insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407142.1:c.1505_1506insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407143.1:c.1505_1506insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407144.1:c.1505_1506insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407145.1:c.1394_1395insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407146.1:c.1379_1380insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407147.1:c.1379_1380insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407148.1:c.1274_1275insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407149.1:c.1274_1275insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407150.1:c.1520_1521insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407151.1:c.1400_1401insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407152.1:c.1214_1215insAGAGGCCGAGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130799.3:c.1391_1392insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130800.3:c.1406_1407insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130801.3:c.1406_1407insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130802.3:c.1406_1407insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130803.3:c.1406_1407insCAGAGGCCGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130804.3:c.1406_1407insCAGAGGCCGAGGC - 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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003204177Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 9, 2022) 		germlineclinical testing

PubMed (9)
[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 mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, Green JS, Guru SC, Manickam P, Olufemi SE, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ.

Hum Mol Genet. 1997 Jul;6(7):1169-75.

PubMed [citation]
PMID:
9215689

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
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV003204177.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala465Argfs*70) 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. 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.Arg516Glyfs*43) have been determined to be pathogenic (PMID: 9215689, 12112656, 12213668, 15670192, 17065424, 17853334, 17879353, 23321498). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MEN1-related conditions.

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

Last Updated: Feb 20, 2024