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NM_001370259.2(MEN1):c.655-1G>C AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 31, 2022
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:
RCV002281151.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.655-1G>C]

NM_001370259.2(MEN1):c.655-1G>C

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.655-1G>C
HGVS:
  • NC_000011.10:g.64807681C>G
  • NG_008929.1:g.8614G>C
  • NG_033040.1:g.561G>C
  • NG_033040.2:g.533G>C
  • NM_000244.4:c.670-1G>C
  • NM_001370251.2:c.655-1G>C
  • NM_001370259.2:c.655-1G>CMANE SELECT
  • NM_001370260.2:c.655-1G>C
  • NM_001370261.2:c.655-1G>C
  • NM_001370262.2:c.550-1G>C
  • NM_001370263.2:c.550-1G>C
  • NM_001407142.1:c.655-1G>C
  • NM_001407143.1:c.655-1G>C
  • NM_001407144.1:c.655-1G>C
  • NM_001407145.1:c.670-1G>C
  • NM_001407146.1:c.655-1G>C
  • NM_001407147.1:c.655-1G>C
  • NM_001407148.1:c.550-1G>C
  • NM_001407149.1:c.550-1G>C
  • NM_001407150.1:c.670-1G>C
  • NM_001407151.1:c.550-1G>C
  • NM_001407152.1:c.655-1G>C
  • NM_130799.3:c.655-1G>C
  • NM_130800.3:c.670-1G>C
  • NM_130801.3:c.670-1G>C
  • NM_130802.3:c.670-1G>C
  • NM_130803.3:c.670-1G>C
  • NM_130804.3:c.670-1G>C
  • LRG_509t2:c.655-1G>C
  • LRG_509:g.8614G>C
  • NC_000011.9:g.64575153C>G
  • NC_000011.9:g.64575153C>G
  • NM_130799.2:c.655-1G>C
Links:
dbSNP: rs1592649615
NCBI 1000 Genomes Browser:
rs1592649615
Molecular consequence:
  • NM_000244.4:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370251.2:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370259.2:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370260.2:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370261.2:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370262.2:c.550-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370263.2:c.550-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407142.1:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407143.1:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407144.1:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407145.1:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407146.1:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407147.1:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407148.1:c.550-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407149.1:c.550-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407150.1:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407151.1:c.550-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407152.1:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130799.3:c.655-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130800.3:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130801.3:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130802.3:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130803.3:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130804.3:c.670-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV002569846GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Aug 31, 2022) 		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, SCV002569846.2

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

Description

Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Observed in patients with a personal or family history consistent with pathogenic MEN1 variants referred for genetic testing at GeneDx and in published literature (Marini et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.670-1 G>C; This variant is associated with the following publications: (PMID: 12874027, 9989505, 15464422, 29497973)

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

Last Updated: Sep 29, 2024