NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3]) AND Multiple endocrine neoplasia, type 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001907997.9

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]

Observations:

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
SCV002146482	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004841147	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Oct 2, 2023)	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

SCV002146482

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 1, 2024)

germline

clinical testing

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

SCV004841147

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Oct 2, 2023)

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	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV002146482.3

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

Description

This variant, c.1392_1400dup, results in the insertion of 3 amino acid(s) of the MEN1 protein (p.Ala465_Ala467dup), but otherwise preserves the integrity of the reading frame. 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: 1372356). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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

From All of Us Research Program, National Institutes of Health, SCV004841147.1

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

Description

This variant duplicates three amino acids, p.Ala465_Ala467, in the MEN1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MEN1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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