NM_000101.3(CYBA):c.214T>C (p.Tyr72His)

NM_000101.3(CYBA):c.214T>C (p.Tyr72His)

Variant type:
single nucleotide variant
Cytogenetic location:
16q24
Genomic location:
  • Chr16:88713236 (on Assembly GRCh37)
  • Chr16:88646828 (on Assembly GRCh38)
Other names:
  • CYBA, HIS72TYR, 242C-T
Protein change:
H72Y, Y72H
HGVS:
  • NM_000101.3:c.214T>C
  • NC_000016.10:g.88646828A>G (GRCh38)
  • NC_000016.9:g.88713236A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs4673
Molecular consequence:
NM_000101.3:c.214T>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.62158 (G)
  • GMAF 0.33570 (A)

Clinical significance

NM_000101.3(CYBA):c.214T>C (p.Tyr72His)

Clinical significance:
Benign/Likely benign
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • CYBA POLYMORPHISM
See supporting ClinVar records

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Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Benign
(Dec 23, 2009)
classified by single submitter
(literature only)
literature only
  • CYBA POLYMORPHISM
germlinePubMed (4)
OMIM
(Dec 30, 2010)
SCV000022509

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Parkos et al. (1988) identified a 242C-T polymorphism (rs4673) in exon 4 of the CYBA gene, leading to a his72-to-tyr (H72Y) substitution. Data on its frequency in Japanese (Inoue et al., 1998) and U.S. (Li et al., 1999) populations have been reported. Bedard et al. (2009) noted that the 242C-T SNP is also referred to as 214T-C (Y72H) based on numbering from the ATG codon.

Last Updated: Oct 30, 2014

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