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

Help

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001527325	Baylor Genetics	criteria provided, single submitter ACMG Guidelines, 2015	Uncertain significance (Sep 6, 2018)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001527325

Baylor Genetics

criteria provided, single submitter

ACMG Guidelines, 2015

Uncertain significance
(Sep 6, 2018)

maternal

clinical testing

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

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

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

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2022

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