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NM_001370259.2(MEN1):c.654+1G>T AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2016
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:
RCV000182411.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.654+1G>T]

NM_001370259.2(MEN1):c.654+1G>T

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.654+1G>T
HGVS:
  • NC_000011.10:g.64807890C>A
  • NG_008929.1:g.8405G>T
  • NG_033040.1:g.352G>T
  • NG_033040.2:g.324G>T
  • NM_000244.4:c.669+1G>T
  • NM_001370251.2:c.654+1G>T
  • NM_001370259.2:c.654+1G>TMANE SELECT
  • NM_001370260.2:c.654+1G>T
  • NM_001370261.2:c.654+1G>T
  • NM_001370262.2:c.549+106G>T
  • NM_001370263.2:c.549+106G>T
  • NM_001407142.1:c.654+1G>T
  • NM_001407143.1:c.654+1G>T
  • NM_001407144.1:c.654+1G>T
  • NM_001407145.1:c.669+1G>T
  • NM_001407146.1:c.654+1G>T
  • NM_001407147.1:c.654+1G>T
  • NM_001407148.1:c.549+106G>T
  • NM_001407149.1:c.549+106G>T
  • NM_001407150.1:c.669+1G>T
  • NM_001407151.1:c.549+106G>T
  • NM_001407152.1:c.654+1G>T
  • NM_130799.3:c.654+1G>T
  • NM_130800.3:c.669+1G>T
  • NM_130801.3:c.669+1G>T
  • NM_130802.3:c.669+1G>T
  • NM_130803.3:c.669+1G>T
  • NM_130804.3:c.669+1G>T
  • LRG_509t2:c.654+1G>T
  • LRG_509:g.8405G>T
  • NC_000011.9:g.64575362C>A
  • NM_130799.2:c.654+1G>T
Links:
dbSNP: rs794728622
NCBI 1000 Genomes Browser:
rs794728622
Molecular consequence:
  • NM_001370262.2:c.549+106G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370263.2:c.549+106G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407148.1:c.549+106G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407149.1:c.549+106G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407151.1:c.549+106G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000244.4:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370251.2:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370259.2:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370260.2:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370261.2:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407142.1:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407143.1:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407144.1:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407145.1:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407146.1:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407147.1:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407150.1:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407152.1:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130799.3:c.654+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130800.3:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130801.3:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130802.3:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130803.3:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130804.3:c.669+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234754GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 7, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234754.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.654+1 G>T splice site variant in the MEN1 gene has been previously reported in association with multiple endocrine neoplasia type 1 (MEN1) (for examples, see Teh et al., 1998a; Teh et al., 1998b; Cardinal et al., 2005). This variant destroys the canonical splice donor site in intron 3, and is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Based on currently available evidence, we consider c.654+1G>T to be pathogenic.

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

Last Updated: Jun 23, 2024