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NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser) AND Adrenocortical adenoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1999
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000018178.5

Allele description [Variation Report for NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)]

NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)

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.1654A>T (p.Thr552Ser)
HGVS:
  • NC_000011.10:g.64804513T>A
  • NG_008929.1:g.11782A>T
  • NG_033040.1:g.3729A>T
  • NM_000244.4:c.1669A>T
  • NM_001370251.2:c.1780A>T
  • NM_001370259.2:c.1654A>TMANE SELECT
  • NM_001370260.2:c.1654A>T
  • NM_001370261.2:c.1654A>T
  • NM_001370262.2:c.1549A>T
  • NM_001370263.2:c.1549A>T
  • NM_130799.3:c.1654A>T
  • NM_130800.3:c.1669A>T
  • NM_130801.3:c.1669A>T
  • NM_130802.3:c.1669A>T
  • NM_130803.3:c.1669A>T
  • NM_130804.3:c.1669A>T
  • NP_000235.3:p.Thr557Ser
  • NP_001357180.2:p.Thr594Ser
  • NP_001357188.2:p.Thr552Ser
  • NP_001357189.2:p.Thr552Ser
  • NP_001357190.2:p.Thr552Ser
  • NP_001357191.2:p.Thr517Ser
  • NP_001357192.2:p.Thr517Ser
  • NP_570711.2:p.Thr552Ser
  • NP_570712.2:p.Thr557Ser
  • NP_570713.2:p.Thr557Ser
  • NP_570714.2:p.Thr557Ser
  • NP_570715.2:p.Thr557Ser
  • NP_570716.2:p.Thr557Ser
  • LRG_509:g.11782A>T
  • NC_000011.9:g.64571985T>A
  • O00255:p.Thr557Ser
Protein change:
T517S; THR552SER
Links:
UniProtKB: O00255#VAR_039646; OMIM: 613733.0022; dbSNP: rs121913035
NCBI 1000 Genomes Browser:
rs121913035
Molecular consequence:
  • NM_000244.4:c.1669A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370251.2:c.1780A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370259.2:c.1654A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370260.2:c.1654A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370261.2:c.1654A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370262.2:c.1549A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370263.2:c.1549A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130799.3:c.1654A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130800.3:c.1669A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130801.3:c.1669A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130802.3:c.1669A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130803.3:c.1669A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130804.3:c.1669A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Adrenocortical adenoma
Synonyms:
Adrenal cortex adenoma; Adenoma of the adrenal gland; Adrenal cortical adenoma; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003924; MedGen: C0206667; Human Phenotype Ontology: HP:0008256

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038457OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1999) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

MEN I gene mutations in sporadic adrenal adenomas.

Schulte KM, Heinze M, Mengel M, Simon D, Scheuring S, Köhrer K, Röher HD.

Hum Genet. 1999 Dec;105(6):603-10.

PubMed [citation]
PMID:
10647896

Details of each submission

From OMIM, SCV000038457.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Because loss of heterozygosity on 11q13 occurs in about 20% of sporadic adrenal neoplasms, and adrenal lesions, mostly benign, occur in up to 40% of patients from MEN1 kindreds, MEN1 was considered a prime candidate gene in these lesions. Schulte et al. (1999) studied 15 patients with sporadic adrenal adenoma (see 131100) and 1 patient with multinodular hyperplasia. Of the 16 patients, 4 had incidentally discovered masses ('incidentalomas'), 5 had Conn syndrome, 6 had Cushing syndrome (219080), and 9 had high sex hormone production. Schulte et al. (1999) performed direct DNA sequencing of the menin gene in 14 sporadic adrenal adenomas and 1 case of adrenal hyperplasia. They identified 1 heterozygous missense mutation, thr552 to ser, in a hormonally inactive adrenal adenoma. This is another example of mutation in the MEN1 gene causing a sporadic form of tumors that occur as part of MEN1 disease. Other examples include parathyroid adenoma, gastrinoma, and bronchial carcinoid tumors.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2023