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NM_001370259.2(MEN1):c.644T>A (p.Val215Glu) AND Multiple endocrine neoplasia, type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 1, 2024
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:
RCV004547434.1

Allele description [Variation Report for NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)]

NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)

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.644T>A (p.Val215Glu)
HGVS:
  • NC_000011.10:g.64807901A>T
  • NG_008929.1:g.8394T>A
  • NG_033040.1:g.341T>A
  • NG_033040.2:g.313T>A
  • NM_000244.4:c.659T>A
  • NM_001370251.2:c.644T>A
  • NM_001370259.2:c.644T>AMANE SELECT
  • NM_001370260.2:c.644T>A
  • NM_001370261.2:c.644T>A
  • NM_001370262.2:c.549+95T>A
  • NM_001370263.2:c.549+95T>A
  • NM_001407142.1:c.644T>A
  • NM_001407143.1:c.644T>A
  • NM_001407144.1:c.644T>A
  • NM_001407145.1:c.659T>A
  • NM_001407146.1:c.644T>A
  • NM_001407147.1:c.644T>A
  • NM_001407148.1:c.549+95T>A
  • NM_001407149.1:c.549+95T>A
  • NM_001407150.1:c.659T>A
  • NM_001407151.1:c.549+95T>A
  • NM_001407152.1:c.644T>A
  • NM_130799.3:c.644T>A
  • NM_130800.3:c.659T>A
  • NM_130801.3:c.659T>A
  • NM_130802.3:c.659T>A
  • NM_130803.3:c.659T>A
  • NM_130804.3:c.659T>A
  • NP_000235.2:p.Val220Glu
  • NP_000235.3:p.Val220Glu
  • NP_001357180.2:p.Val215Glu
  • NP_001357188.2:p.Val215Glu
  • NP_001357189.2:p.Val215Glu
  • NP_001357190.2:p.Val215Glu
  • NP_001394071.1:p.Val215Glu
  • NP_001394072.1:p.Val215Glu
  • NP_001394073.1:p.Val215Glu
  • NP_001394074.1:p.Val220Glu
  • NP_001394075.1:p.Val215Glu
  • NP_001394076.1:p.Val215Glu
  • NP_001394079.1:p.Val220Glu
  • NP_001394081.1:p.Val215Glu
  • NP_570711.1:p.Val215Glu
  • NP_570711.2:p.Val215Glu
  • NP_570712.2:p.Val220Glu
  • NP_570713.2:p.Val220Glu
  • NP_570714.2:p.Val220Glu
  • NP_570715.2:p.Val220Glu
  • NP_570716.2:p.Val220Glu
  • LRG_509t1:c.659T>A
  • LRG_509t2:c.644T>A
  • LRG_509:g.8394T>A
  • LRG_509p1:p.Val220Glu
  • LRG_509p2:p.Val215Glu
  • NC_000011.9:g.64575373A>T
  • NM_000244.3:c.659T>A
  • NM_130799.2:c.644T>A
  • NM_130803.2:c.659T>A
  • NR_176284.1:n.693T>A
  • NR_176285.1:n.705T>A
  • NR_176286.1:n.708T>A
  • NR_176287.1:n.966T>A
Protein change:
V215E
Molecular consequence:
  • NM_001370262.2:c.549+95T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370263.2:c.549+95T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407148.1:c.549+95T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407149.1:c.549+95T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407151.1:c.549+95T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000244.4:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370251.2:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370259.2:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370260.2:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370261.2:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407142.1:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407143.1:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407144.1:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407145.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407146.1:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407147.1:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407150.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407152.1:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130799.3:c.644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130800.3:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130801.3:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130802.3:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130803.3:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130804.3:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176284.1:n.693T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176285.1:n.705T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176286.1:n.708T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176287.1:n.966T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005043074Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 1, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine, SCV005043074.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 19, 2024