NM_001370259.2(MEN1):c.*412G>A AND Somatotroph adenoma

Clinical significance:Likely pathogenic (Last evaluated: Dec 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000736007.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.*412G>A]

NM_001370259.2(MEN1):c.*412G>A

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.*412G>A
HGVS:
  • NC_000011.10:g.64803922C>T
  • NG_008929.1:g.12373G>A
  • NG_033040.1:g.4320G>A
  • NM_000244.3:c.*412G>A
  • NM_001370251.1:c.*412G>A
  • NM_001370259.2:c.*412G>AMANE SELECT
  • NM_001370260.1:c.*412G>A
  • NM_001370261.1:c.*412G>A
  • NM_001370262.1:c.*412G>A
  • NM_001370263.1:c.*412G>A
  • NM_130799.2:c.*412G>A
  • NM_130800.2:c.*412G>A
  • NM_130801.2:c.*412G>A
  • NM_130802.2:c.*412G>A
  • NM_130803.2:c.*412G>A
  • NM_130804.2:c.*412G>A
  • LRG_509t1:c.*412G>A
  • LRG_509t2:c.*412G>A
  • LRG_509:g.12373G>A
  • NC_000011.9:g.64571394C>T
Links:
dbSNP: rs972128957
NCBI 1000 Genomes Browser:
rs972128957
Molecular consequence:
  • NM_000244.3:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370251.1:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370259.2:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370260.1:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370261.1:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370262.1:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370263.1:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130799.2:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130800.2:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130801.2:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130802.2:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130803.2:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130804.2:c.*412G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Somatotroph adenoma (PITA1)
Synonyms:
ISOLATED FAMILIAL SOMATOTROPINOMA; SOMATOTROPHINOMA, FAMILIAL; Pituitary tumor, growth hormone-secreting, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007052; MedGen: C4538355; Orphanet: 963; OMIM: 102200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611860Aziz Sancar Institute of Experimental Medicine,Istanbul Universitycriteria provided, single submitter
Likely pathogenic
(Dec 5, 2017)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkishgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients.

Yarman S, Tuncer FN, Serbest E.

Pathobiology. 2019;86(2-3):128-134. doi: 10.1159/000495252. Epub 2019 Jan 10.

PubMed [citation]
PMID:
30630164

Details of each submission

From Aziz Sancar Institute of Experimental Medicine,Istanbul University, SCV000611860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkish1not providednot providedresearch PubMed (1)

Description

A novel variant associated with clinical findings.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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