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NM_001556.2(IKBKB):c.1504G>A (p.Glu502Lys)

Variation ID: Help
541644
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Jan 2, 2018
Number of submission(s):
1
Condition(s):
Immunodeficiency 15[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001556.2(IKBKB):c.1504G>A (p.Glu502Lys)

Allele ID:
523888
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
  • Chr8: 42319409 (on Assembly GRCh38)
  • Chr8: 42176927 (on Assembly GRCh37)
Protein change:
E502K
HGVS:
  • NG_041793.1:g.53108G>A
  • NM_001556.2:c.1504G>A
  • NP_001547.1:p.Glu502Lys
  • NC_000008.11:g.42319409G>A (GRCh38)
  • NC_000008.10:g.42176927G>A (GRCh37)
  • LRG_1241:g.53108G>A
Links:
NCBI 1000 Genomes Browser:
rs115698972
Molecular consequence:
NM_001556.2:c.1504G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00300 (A)
  • 1000 Genomes Project 0.00300
  • Exome Aggregation Consortium (ExAC) 0.00093
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00384
  • The Genome Aggregation Database (gnomAD) 0.00336
  • The Genome Aggregation Database (gnomAD), exomes 0.00074
  • Trans-Omics for Precision Medicine (TOPMed) 0.00357

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Jan 2, 2018)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000773808.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Invitaenot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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