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NM_001370259.2(MEN1):c.655-6C>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Oct 15, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002255283.3

Allele description [Variation Report for NM_001370259.2(MEN1):c.655-6C>T]

NM_001370259.2(MEN1):c.655-6C>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.655-6C>T
HGVS:
  • NC_000011.10:g.64807686G>A
  • NG_008929.1:g.8609C>T
  • NG_033040.1:g.556C>T
  • NM_000244.4:c.670-6C>T
  • NM_001370251.2:c.655-6C>T
  • NM_001370259.2:c.655-6C>TMANE SELECT
  • NM_001370260.2:c.655-6C>T
  • NM_001370261.2:c.655-6C>T
  • NM_001370262.2:c.550-6C>T
  • NM_001370263.2:c.550-6C>T
  • NM_130799.3:c.655-6C>T
  • NM_130800.3:c.670-6C>T
  • NM_130801.3:c.670-6C>T
  • NM_130802.3:c.670-6C>T
  • NM_130803.3:c.670-6C>T
  • NM_130804.3:c.670-6C>T
  • LRG_509t1:c.670-6C>T
  • LRG_509t2:c.655-6C>T
  • LRG_509:g.8609C>T
  • NC_000011.9:g.64575158G>A
  • NM_000244.3:c.670-6C>T
  • NM_130799.2:c.655-6C>T
Links:
dbSNP: rs77461664
NCBI 1000 Genomes Browser:
rs77461664
Molecular consequence:
  • NM_000244.4:c.670-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370251.2:c.655-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370259.2:c.655-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370260.2:c.655-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370261.2:c.655-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370262.2:c.550-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370263.2:c.550-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130799.3:c.655-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130800.3:c.670-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130801.3:c.670-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130802.3:c.670-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130803.3:c.670-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130804.3:c.670-6C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002530081Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Benign
(Oct 15, 2020) 		germlinecuration

Citation Link,

SCV002665868Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 30, 2015) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Citations

PubMed

Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.

Roijers JF, de Wit MJ, van der Luijt RB, Ploos van Amstel HK, Höppener JW, Lips CJ.

Eur J Clin Invest. 2000 Jun;30(6):487-92.

PubMed [citation]
PMID:
10849016

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

Cuny T, Pertuit M, Sahnoun-Fathallah M, Daly A, Occhi G, Odou MF, Tabarin A, Nunes ML, Delemer B, Rohmer V, Desailloud R, Kerlan V, Chabre O, Sadoul JL, Cogne M, Caron P, Cortet-Rudelli C, Lienhardt A, Raingeard I, Guedj AM, Brue T, Beckers A, et al.

Eur J Endocrinol. 2013 Mar 15;168(4):533-41. doi: 10.1530/EJE-12-0763. Print 2013 Apr.

PubMed [citation]
PMID:
23321498

Details of each submission

From Sema4, Sema4, SCV002530081.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002665868.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 20, 2024