NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly) AND Multiple endocrine neoplasia, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 18, 2021
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:: RCV001891575.6

Allele description [Variation Report for NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly)]

NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly)

Gene:

MEN1:menin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly)

HGVS:

NC_000011.10:g.64804764T>C
NG_008929.1:g.11531A>G
NG_033040.1:g.3478A>G
NM_000244.4:c.1418A>G
NM_001370251.2:c.1529A>G
NM_001370259.2:c.1403A>GMANE SELECT
NM_001370260.2:c.1403A>G
NM_001370261.2:c.1403A>G
NM_001370262.2:c.1298A>G
NM_001370263.2:c.1298A>G
NM_130799.3:c.1403A>G
NM_130800.3:c.1418A>G
NM_130801.3:c.1418A>G
NM_130802.3:c.1418A>G
NM_130803.3:c.1418A>G
NM_130804.3:c.1418A>G
NP_000235.3:p.Glu473Gly
NP_001357180.2:p.Glu510Gly
NP_001357188.2:p.Glu468Gly
NP_001357189.2:p.Glu468Gly
NP_001357190.2:p.Glu468Gly
NP_001357191.2:p.Glu433Gly
NP_001357192.2:p.Glu433Gly
NP_570711.2:p.Glu468Gly
NP_570712.2:p.Glu473Gly
NP_570713.2:p.Glu473Gly
NP_570714.2:p.Glu473Gly
NP_570715.2:p.Glu473Gly
NP_570716.2:p.Glu473Gly
LRG_509:g.11531A>G
NC_000011.9:g.64572236T>C

Protein change:

E433G

Links:

dbSNP: rs2136091899

NCBI 1000 Genomes Browser:

rs2136091899

Molecular consequence:

NM_000244.4:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.1529A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002165759	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 18, 2021)	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

SCV002165759

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 18, 2021)

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

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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002165759.3

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MEN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 468 of the MEN1 protein (p.Glu468Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

#	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: Sep 29, 2024

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