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NM_001370259.2(MEN1):c.-6G>A AND Multiple endocrine neoplasia, type 1

Clinical significance:Uncertain significance (Last evaluated: Sep 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001334472.3

Allele description [Variation Report for NM_001370259.2(MEN1):c.-6G>A]

NM_001370259.2(MEN1):c.-6G>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.-6G>A
HGVS:
  • NC_000011.10:g.64810115C>T
  • NG_008929.1:g.6180G>A
  • NM_000244.4:c.-6G>A
  • NM_001370251.2:c.-6G>A
  • NM_001370259.2:c.-6G>AMANE SELECT
  • NM_001370260.2:c.-6G>A
  • NM_001370261.2:c.-6G>A
  • NM_001370262.2:c.-6G>A
  • NM_001370263.2:c.-6G>A
  • NM_130799.3:c.-6G>A
  • NM_130800.3:c.-6G>A
  • NM_130801.3:c.-6G>A
  • NM_130802.3:c.-6G>A
  • NM_130803.3:c.-6G>A
  • NM_130804.3:c.-6G>A
  • LRG_509t2:c.-6G>A
  • LRG_509:g.6180G>A
  • NC_000011.9:g.64577587C>T
  • NM_130799.2:c.-6G>A
Links:
dbSNP: rs768088337
NCBI 1000 Genomes Browser:
rs768088337
Molecular consequence:
  • NM_000244.4:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370251.2:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370259.2:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370260.2:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370261.2:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370262.2:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370263.2:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_130799.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_130800.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_130801.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_130802.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_130803.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_130804.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001527325Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Sep 6, 2018)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001527325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 29, 2022