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NM_001370259.2(MEN1):c.1074_1075delinsAA (p.Glu359Lys) AND Angiofibroma, somatic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1998
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000018175.5

Allele description [Variation Report for NM_001370259.2(MEN1):c.1074_1075delinsAA (p.Glu359Lys)]

NM_001370259.2(MEN1):c.1074_1075delinsAA (p.Glu359Lys)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.1074_1075delinsAA (p.Glu359Lys)
Other names:
MEN1, 1184GG-AA, GLU359LYS
HGVS:
  • NC_000011.10:g.64805745_64805746delinsTT
  • NG_008929.1:g.10549_10550delinsAA
  • NG_033040.1:g.2496_2497delinsAA
  • NM_000244.4:c.1089_1090delinsAA
  • NM_001370251.2:c.1200_1201delinsAA
  • NM_001370259.2:c.1074_1075delinsAAMANE SELECT
  • NM_001370260.2:c.1074_1075delinsAA
  • NM_001370261.2:c.1074_1075delinsAA
  • NM_001370262.2:c.969_970delinsAA
  • NM_001370263.2:c.969_970delinsAA
  • NM_130799.3:c.1074_1075delinsAA
  • NM_130800.3:c.1089_1090delinsAA
  • NM_130801.3:c.1089_1090delinsAA
  • NM_130802.3:c.1089_1090delinsAA
  • NM_130803.3:c.1089_1090delinsAA
  • NM_130804.3:c.1089_1090delinsAA
  • NP_000235.3:p.Glu364Lys
  • NP_001357180.2:p.Glu401Lys
  • NP_001357188.2:p.Glu359Lys
  • NP_001357189.2:p.Glu359Lys
  • NP_001357190.2:p.Glu359Lys
  • NP_001357191.2:p.Glu324Lys
  • NP_001357192.2:p.Glu324Lys
  • NP_570711.2:p.Glu359Lys
  • NP_570712.2:p.Glu364Lys
  • NP_570713.2:p.Glu364Lys
  • NP_570714.2:p.Glu364Lys
  • NP_570715.2:p.Glu364Lys
  • NP_570716.2:p.Glu364Lys
  • LRG_509:g.10549_10550delinsAA
  • NC_000011.9:g.64573217_64573218delinsTT
Protein change:
E324K; GLU359LYS
Links:
OMIM: 613733.0019; dbSNP: rs267607234
NCBI 1000 Genomes Browser:
rs267607234
Molecular consequence:
  • NM_000244.4:c.1089_1090delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370251.2:c.1200_1201delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370259.2:c.1074_1075delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370260.2:c.1074_1075delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370261.2:c.1074_1075delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370262.2:c.969_970delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370263.2:c.969_970delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130799.3:c.1074_1075delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130800.3:c.1089_1090delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130801.3:c.1089_1090delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130802.3:c.1089_1090delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130803.3:c.1089_1090delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130804.3:c.1089_1090delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Angiofibroma, somatic
Identifiers:
MedGen: C4017331

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038454OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1998) 		somaticliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.

Böni R, Vortmeyer AO, Pack S, Park WS, Burg G, Hofbauer G, Darling T, Liotta L, Zhuang Z.

J Invest Dermatol. 1998 Sep;111(3):539-40. No abstract available.

PubMed [citation]
PMID:
9740255

Details of each submission

From OMIM, SCV000038454.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See 613733.0018 and Boni et al. (1998).

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

Last Updated: Nov 5, 2022