NM_130799.2(MEN1):c.76G>A (p.Glu26Lys)

Variation ID: Help
16689
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_130799.2(MEN1):c.76G>A (p.Glu26Lys)

Allele ID:
31728
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
  • Chr11: 64810034 (on Assembly GRCh38)
  • Chr11: 64577506 (on Assembly GRCh37)
Protein change:
E26K
HGVS:
  • NG_008929.1:g.6261G>A
  • NM_000244.3:c.76G>A
  • NM_130799.2:c.76G>A
  • NP_000235.2:p.Glu26Lys
  • NP_570711.1:p.Glu26Lys
  • NC_000011.10:g.64810034C>T (GRCh38)
  • LRG_509t1:c.76G>A
  • LRG_509t2:c.76G>A
  • NC_000011.9:g.64577506C>T (GRCh37)
  • O00255:p.Glu26Lys
  • LRG_509p1:p.Glu26Lys
  • LRG_509p2:p.Glu26Lys
  • LRG_509:g.6261G>A
Links:
NCBI 1000 Genomes Browser:
rs28931612
Molecular consequence:
NM_000244.3:c.76G>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Apr 25, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000576625.2

    Somatic

    Clinical significance
    (Last evaluated)
    Review status
    (Assertion method)
    Collection methodCondition(s)
    (Mode of inheritance)
    OriginCitationsSubmitter - Study nameSubmission accession
    Pathogenic
    (Aug 1, 1997)
    no assertion criteria providedliterature only
    • Parathyroid adenoma, somatic[MedGen]
    somaticOMIMSCV000038448.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, somaticnot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe E26K variant in th eMEN1 g…Full description
    OMIMnot providednot providedsomaticnot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 30, 2017