NM_001370259.2(MEN1):c.-23-28_783+50del AND Multiple endocrine neoplasia, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 26, 2024
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:: RCV003990251.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.-23-28_783+50del]

NM_001370259.2(MEN1):c.-23-28_783+50del

Gene:

MEN1:menin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001370259.2(MEN1):c.-23-28_783+50del

HGVS:

NC_000011.10:g.64807503_64810161del
NG_008929.1:g.6135_8793del
NG_033040.1:g.29_739del
NG_033040.2:g.1_711del
NM_000244.4:c.-23-28_798+50del
NM_001370251.2:c.-23-28_783+50del
NM_001370259.2:c.-23-28_783+50delMANE SELECT
NM_001370260.2:c.-23-28_783+50del
NM_001370261.2:c.-23-28_783+50del
NM_001370262.2:c.-23-28_678+50del
NM_001370263.2:c.-23-28_678+50del
NM_001407142.1:c.-23-28_783+50del
NM_001407143.1:c.-23-28_783+50del
NM_001407144.1:c.-23-28_783+50del
NM_001407145.1:c.-23-28_798+50del
NM_001407146.1:c.-23-28_783+50del
NM_001407147.1:c.-23-28_783+50del
NM_001407148.1:c.-23-28_678+50del
NM_001407149.1:c.-23-28_678+50del
NM_001407150.1:c.-23-28_798+50del
NM_001407151.1:c.-23-28_678+50del
NM_001407152.1:c.-23-28_783+50del
NM_130799.3:c.-23-28_783+50del
NM_130800.3:c.-23-28_798+50del
NM_130801.3:c.-23-28_798+50del
NM_130802.3:c.-23-28_798+50del
NM_130803.3:c.-23-28_798+50del
NM_130804.3:c.-23-28_798+50del
LRG_509:g.6135_8793del
NC_000011.9:g.64574975_64577633del
NM_001370251.1:c.-23-28_783+50del

Molecular consequence:

NM_000244.4:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001370251.2:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001370259.2:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001370260.2:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001370261.2:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001370262.2:c.-23-28_678+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001370263.2:c.-23-28_678+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407142.1:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407143.1:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407144.1:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407145.1:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407146.1:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407147.1:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407148.1:c.-23-28_678+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407149.1:c.-23-28_678+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407150.1:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407151.1:c.-23-28_678+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407152.1:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_130799.3:c.-23-28_783+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_130800.3:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_130801.3:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_130802.3:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_130803.3:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_130804.3:c.-23-28_798+50del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000244.4:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001370251.2:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001370259.2:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001370260.2:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001370261.2:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001370262.2:c.-23-28_678+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001370263.2:c.-23-28_678+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407142.1:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407143.1:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407144.1:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407145.1:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407146.1:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407147.1:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407148.1:c.-23-28_678+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407149.1:c.-23-28_678+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407150.1:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407151.1:c.-23-28_678+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407152.1:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_130799.3:c.-23-28_783+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_130800.3:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_130801.3:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_130802.3:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_130803.3:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_130804.3:c.-23-28_798+50del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000244.4:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370251.2:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370259.2:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370260.2:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370261.2:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370262.2:c.-23-28_678+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001370263.2:c.-23-28_678+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407142.1:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407143.1:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407144.1:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407145.1:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407146.1:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407147.1:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407148.1:c.-23-28_678+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407149.1:c.-23-28_678+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407150.1:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407151.1:c.-23-28_678+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407152.1:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130799.3:c.-23-28_783+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130800.3:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130801.3:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130802.3:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130803.3:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130804.3:c.-23-28_798+50del - splice donor variant - [Sequence Ontology: SO:0001575]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004806697	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 26, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004806697

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 26, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806697.1

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

#	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: Aug 4, 2024

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