NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 6, 2013
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:: RCV000082340.4

Allele description

NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)

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.936C>G (p.Tyr312Ter)

Other names:

NP_570711.1:p.Tyr312*

HGVS:

NC_000011.10:g.64806345G>C
NG_008929.1:g.9950C>G
NG_033040.1:g.1897C>G
NM_000244.3:c.951C>G
NM_001370251.1:c.936C>G
NM_001370259.2:c.936C>GMANE SELECT
NM_001370260.1:c.936C>G
NM_001370261.1:c.936C>G
NM_001370262.1:c.831C>G
NM_001370263.1:c.831C>G
NM_130799.2:c.936C>G
NM_130800.2:c.951C>G
NM_130801.2:c.951C>G
NM_130802.2:c.951C>G
NM_130803.2:c.951C>G
NM_130804.2:c.951C>G
NP_000235.2:p.Tyr317Ter
NP_001357180.1:p.Tyr312Ter
NP_001357188.2:p.Tyr312Ter
NP_001357189.1:p.Tyr312Ter
NP_001357190.1:p.Tyr312Ter
NP_001357191.1:p.Tyr277Ter
NP_001357192.1:p.Tyr277Ter
NP_570711.1:p.Tyr312Ter
NP_570712.1:p.Tyr317Ter
NP_570713.1:p.Tyr317Ter
NP_570714.1:p.Tyr317Ter
NP_570715.1:p.Tyr317Ter
NP_570716.1:p.Tyr317Ter
LRG_509t1:c.951C>G
LRG_509t2:c.936C>G
LRG_509:g.9950C>G
LRG_509p1:p.Tyr317Ter
LRG_509p2:p.Tyr312Ter
NC_000011.9:g.64573817G>C
p.Tyr317X

Protein change:

Y277*

Links:

dbSNP: rs386134260

NCBI 1000 Genomes Browser:

rs386134260

Molecular consequence:

NM_000244.3:c.951C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001370251.1:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001370259.2:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001370260.1:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001370261.1:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001370262.1:c.831C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001370263.1:c.831C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_130799.2:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_130800.2:c.951C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_130801.2:c.951C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_130802.2:c.951C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_130803.2:c.951C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_130804.2:c.951C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:: MedGen: CN517202

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MAST2 microtubule associated serine/threonine kinase 2 [Homo sapiens]
MAST2 microtubule associated serine/threonine kinase 2 [Homo sapiens]
Gene ID:23139

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114303	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 6, 2013)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15292304, 9832038 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000114303

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Nov 6, 2013)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma.

Hao W, Skarulis MC, Simonds WF, Weinstein LS, Agarwal SK, Mateo C, James-Newton L, Hobbs GR, Gibril F, Jensen RT, Marx SJ.

J Clin Endocrinol Metab. 2004 Aug;89(8):3776-84.

PubMed [citation]

PMID:: 15292304

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

Sato M, Matsubara S, Miyauchi A, Ohye H, Imachi H, Murao K, Takahara J.

J Med Genet. 1998 Nov;35(11):915-9.

PubMed [citation]

PMID:: 9832038
PMCID:: PMC1051484

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000114303.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Oct 30, 2021

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