NM_001370259.2(MEN1):c.1595G>A (p.Gly532Asp) AND Multiple endocrine neoplasia, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 8, 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:: RCV003632124.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1595G>A (p.Gly532Asp)]

NM_001370259.2(MEN1):c.1595G>A (p.Gly532Asp)

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.1595G>A (p.Gly532Asp)

HGVS:

NC_000011.10:g.64804572C>T
NG_008929.1:g.11723G>A
NG_033040.1:g.3670G>A
NG_033040.2:g.3642G>A
NM_000244.4:c.1610G>A
NM_001370251.2:c.1721G>A
NM_001370259.2:c.1595G>AMANE SELECT
NM_001370260.2:c.1595G>A
NM_001370261.2:c.1595G>A
NM_001370262.2:c.1490G>A
NM_001370263.2:c.1490G>A
NM_001407142.1:c.1721G>A
NM_001407143.1:c.1721G>A
NM_001407144.1:c.1721G>A
NM_001407145.1:c.1610G>A
NM_001407146.1:c.1595G>A
NM_001407147.1:c.1595G>A
NM_001407148.1:c.1490G>A
NM_001407149.1:c.1490G>A
NM_001407150.1:c.1736G>A
NM_001407151.1:c.1616G>A
NM_001407152.1:c.1430G>A
NM_130799.3:c.1595G>A
NM_130800.3:c.1610G>A
NM_130801.3:c.1610G>A
NM_130802.3:c.1610G>A
NM_130803.3:c.1610G>A
NM_130804.3:c.1610G>A
NP_000235.2:p.Gly537Asp
NP_000235.3:p.Gly537Asp
NP_001357180.2:p.Gly574Asp
NP_001357188.2:p.Gly532Asp
NP_001357189.2:p.Gly532Asp
NP_001357190.2:p.Gly532Asp
NP_001357191.2:p.Gly497Asp
NP_001357192.2:p.Gly497Asp
NP_001394071.1:p.Gly574Asp
NP_001394072.1:p.Gly574Asp
NP_001394073.1:p.Gly574Asp
NP_001394074.1:p.Gly537Asp
NP_001394075.1:p.Gly532Asp
NP_001394076.1:p.Gly532Asp
NP_001394077.1:p.Gly497Asp
NP_001394078.1:p.Gly497Asp
NP_001394079.1:p.Gly579Asp
NP_001394080.1:p.Gly539Asp
NP_001394081.1:p.Gly477Asp
NP_570711.1:p.Gly532Asp
NP_570711.2:p.Gly532Asp
NP_570712.2:p.Gly537Asp
NP_570713.2:p.Gly537Asp
NP_570714.2:p.Gly537Asp
NP_570715.2:p.Gly537Asp
NP_570716.2:p.Gly537Asp
LRG_509t1:c.1610G>A
LRG_509t2:c.1595G>A
LRG_509:g.11723G>A
LRG_509p1:p.Gly537Asp
LRG_509p2:p.Gly532Asp
NC_000011.9:g.64572044C>T
NM_000244.3:c.1610G>A
NM_130799.2:c.1595G>A
NR_176284.1:n.1793G>A
NR_176285.1:n.1805G>A
NR_176286.1:n.1808G>A
NR_176287.1:n.2066G>A

Protein change:

G477D

Molecular consequence:

NM_000244.4:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407142.1:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407143.1:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407144.1:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407145.1:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407146.1:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407147.1:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407148.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407149.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407150.1:c.1736G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407151.1:c.1616G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407152.1:c.1430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_176284.1:n.1793G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176285.1:n.1805G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176286.1:n.1808G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176287.1:n.2066G>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004452444	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 8, 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

SCV004452444

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 8, 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004452444.1

#	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 not expected to disrupt MEN1 protein function. This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 532 of the MEN1 protein (p.Gly532Asp).

#	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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