NM_001370259.2(MEN1):c.308T>A (p.Leu103Gln) AND Multiple endocrine neoplasia, type 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 14, 2023
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:: RCV003517755.1

Allele description

NM_001370259.2(MEN1):c.308T>A (p.Leu103Gln)

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.308T>A (p.Leu103Gln)

HGVS:

NC_000011.10:g.64809802A>T
NG_008929.1:g.6493T>A
NM_000244.4:c.308T>A
NM_001370251.2:c.308T>A
NM_001370259.2:c.308T>AMANE SELECT
NM_001370260.2:c.308T>A
NM_001370261.2:c.308T>A
NM_001370262.2:c.308T>A
NM_001370263.2:c.308T>A
NM_001407142.1:c.308T>A
NM_001407143.1:c.308T>A
NM_001407144.1:c.308T>A
NM_001407145.1:c.308T>A
NM_001407146.1:c.308T>A
NM_001407147.1:c.308T>A
NM_001407148.1:c.308T>A
NM_001407149.1:c.308T>A
NM_001407150.1:c.308T>A
NM_001407151.1:c.308T>A
NM_001407152.1:c.308T>A
NM_130799.3:c.308T>A
NM_130800.3:c.308T>A
NM_130801.3:c.308T>A
NM_130802.3:c.308T>A
NM_130803.3:c.308T>A
NM_130804.3:c.308T>A
NP_000235.2:p.Leu103Gln
NP_000235.3:p.Leu103Gln
NP_001357180.2:p.Leu103Gln
NP_001357188.2:p.Leu103Gln
NP_001357189.2:p.Leu103Gln
NP_001357190.2:p.Leu103Gln
NP_001357191.2:p.Leu103Gln
NP_001357192.2:p.Leu103Gln
NP_001394071.1:p.Leu103Gln
NP_001394072.1:p.Leu103Gln
NP_001394073.1:p.Leu103Gln
NP_001394074.1:p.Leu103Gln
NP_001394075.1:p.Leu103Gln
NP_001394076.1:p.Leu103Gln
NP_001394077.1:p.Leu103Gln
NP_001394078.1:p.Leu103Gln
NP_001394079.1:p.Leu103Gln
NP_001394080.1:p.Leu103Gln
NP_001394081.1:p.Leu103Gln
NP_570711.1:p.Leu103Gln
NP_570711.2:p.Leu103Gln
NP_570712.2:p.Leu103Gln
NP_570713.2:p.Leu103Gln
NP_570714.2:p.Leu103Gln
NP_570715.2:p.Leu103Gln
NP_570716.2:p.Leu103Gln
LRG_509t1:c.308T>A
LRG_509t2:c.308T>A
LRG_509:g.6493T>A
LRG_509p1:p.Leu103Gln
LRG_509p2:p.Leu103Gln
NC_000011.9:g.64577274A>T
NM_000244.3:c.308T>A
NM_130799.2:c.308T>A
NR_176284.1:n.357T>A
NR_176285.1:n.369T>A
NR_176286.1:n.357T>A
NR_176287.1:n.615T>A

Protein change:

L103Q

Molecular consequence:

NM_000244.4:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407142.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407143.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407144.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407145.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407146.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407147.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407148.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407149.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407150.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407151.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407152.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_176284.1:n.357T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176285.1:n.369T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176286.1:n.357T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176287.1:n.615T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Arabideae internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA ge...
Arabideae internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence.
PopSet: 94537870

PopSet

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004329383	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 14, 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

SCV004329383

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 14, 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	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 Invitae, SCV004329383.1

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

Description

This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 103 of the MEN1 protein (p.Leu103Gln). 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. 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. 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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine