NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu) AND Multiple endocrine neoplasia, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 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:: RCV001885690.6

Allele description [Variation Report for NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu)]

NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu)

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.778C>G (p.Gln260Glu)

HGVS:

NC_000011.10:g.64807557G>C
NG_008929.1:g.8738C>G
NG_033040.1:g.685C>G
NM_000244.4:c.793C>G
NM_001370251.2:c.778C>G
NM_001370259.2:c.778C>GMANE SELECT
NM_001370260.2:c.778C>G
NM_001370261.2:c.778C>G
NM_001370262.2:c.673C>G
NM_001370263.2:c.673C>G
NM_130799.3:c.778C>G
NM_130800.3:c.793C>G
NM_130801.3:c.793C>G
NM_130802.3:c.793C>G
NM_130803.3:c.793C>G
NM_130804.3:c.793C>G
NP_000235.3:p.Gln265Glu
NP_001357180.2:p.Gln260Glu
NP_001357188.2:p.Gln260Glu
NP_001357189.2:p.Gln260Glu
NP_001357190.2:p.Gln260Glu
NP_001357191.2:p.Gln225Glu
NP_001357192.2:p.Gln225Glu
NP_570711.2:p.Gln260Glu
NP_570712.2:p.Gln265Glu
NP_570713.2:p.Gln265Glu
NP_570714.2:p.Gln265Glu
NP_570715.2:p.Gln265Glu
NP_570716.2:p.Gln265Glu
LRG_509:g.8738C>G
NC_000011.9:g.64575029G>C

Protein change:

Q225E

Links:

dbSNP: rs104894266

NCBI 1000 Genomes Browser:

rs104894266

Molecular consequence:

NM_000244.4:c.793C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.673C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.673C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.793C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.793C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.793C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.793C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.793C>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
SCV002147445	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 27, 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

SCV002147445

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 27, 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, SCV002147445.3

#	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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MEN1 protein function. 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 glutamine with glutamic acid at codon 260 of the MEN1 protein (p.Gln260Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

#	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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