NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro) AND Multiple endocrine neoplasia, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 28, 2020
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:: RCV001368589.7

Allele description [Variation Report for NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)]

NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)

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.530T>C (p.Leu177Pro)

HGVS:

NC_000011.10:g.64808015A>G
NG_008929.1:g.8280T>C
NG_033040.1:g.227T>C
NM_000244.4:c.545T>C
NM_001370251.2:c.530T>C
NM_001370259.2:c.530T>CMANE SELECT
NM_001370260.2:c.530T>C
NM_001370261.2:c.530T>C
NM_001370262.2:c.530T>C
NM_001370263.2:c.530T>C
NM_130799.3:c.530T>C
NM_130800.3:c.545T>C
NM_130801.3:c.545T>C
NM_130802.3:c.545T>C
NM_130803.3:c.545T>C
NM_130804.3:c.545T>C
NP_000235.3:p.Leu182Pro
NP_001357180.2:p.Leu177Pro
NP_001357188.2:p.Leu177Pro
NP_001357189.2:p.Leu177Pro
NP_001357190.2:p.Leu177Pro
NP_001357191.2:p.Leu177Pro
NP_001357192.2:p.Leu177Pro
NP_570711.2:p.Leu177Pro
NP_570712.2:p.Leu182Pro
NP_570713.2:p.Leu182Pro
NP_570714.2:p.Leu182Pro
NP_570715.2:p.Leu182Pro
NP_570716.2:p.Leu182Pro
LRG_509:g.8280T>C
NC_000011.9:g.64575487A>G

Protein change:

L177P

Links:

dbSNP: rs2136154828

NCBI 1000 Genomes Browser:

rs2136154828

Molecular consequence:

NM_000244.4:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.545T>C - 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
SCV001564988	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 28, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16699310, 25527055, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001564988

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 28, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Microadenomatosis of the endocrine pancreas in patients with and without the multiple endocrine neoplasia type 1 syndrome.

Anlauf M, Schlenger R, Perren A, Bauersfeld J, Koch CA, Dralle H, Raffel A, Knoefel WT, Weihe E, Ruszniewski P, Couvelard A, Komminoth P, Heitz PU, Klöppel G.

Am J Surg Pathol. 2006 May;30(5):560-74.

PubMed [citation]

PMID:: 16699310

EUS is superior for detection of pancreatic lesions compared with standard imaging in patients with multiple endocrine neoplasia type 1.

van Asselt SJ, Brouwers AH, van Dullemen HM, van der Jagt EJ, Bongaerts AH, Kema IP, Koopmans KP, Valk GD, Timmers HJ, de Herder WW, Feelders RA, Fockens P, Sluiter WJ, de Vries EG, Links TP.

Gastrointest Endosc. 2015 Jan;81(1):159-167.e2. doi: 10.1016/j.gie.2014.09.037.

PubMed [citation]

PMID:: 25527055

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001564988.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces leucine with proline at codon 177 of the MEN1 protein (p.Leu177Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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 been observed in individual(s) affected with multiple endocrine neoplasia type 1 (PMID: 16699310, 25527055). This variant is also known as c.545T>C9 (p.Leu182Pro) in the literature. This variant is not present in population databases (ExAC no frequency).

#	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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