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NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 10, 2021)
Last evaluated:
Jan 19, 2021
Accession:
VCV000252465.9
Variation ID:
252465
Description:
single nucleotide variant
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NM_000101.4(CYBA):c.179A>C (p.Lys60Thr)

Allele ID
247122
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.2
Genomic location
16: 88647125 (GRCh38) GRCh38 UCSC
16: 88713533 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_52:g.8925A>C
NC_000016.10:g.88647125T>G
NC_000016.9:g.88713533T>G
... more HGVS
Protein change
K60T
Other names
-
Canonical SPDI
NC_000016.10:88647124:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00487
The Genome Aggregation Database (gnomAD) 0.00354
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00408
Exome Aggregation Consortium (ExAC) 0.00387
The Genome Aggregation Database (gnomAD), exomes 0.00390
1000 Genomes Project 0.00200
Trans-Omics for Precision Medicine (TOPMed) 0.00467
Links
ClinGen: CA8228402
dbSNP: rs11547387
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 20, 2015 RCV000239262.3
Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 19, 2021 RCV001310341.4
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV000558236.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYBA - - GRCh38
GRCh37
233 304

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 20, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000296871.2
Submitted: (Jan 06, 2016)
Evidence details
Benign
(Sep 11, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000333565.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Allele origin: germline
Invitae
Accession: SCV000641914.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001778805.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 10910929, 27048830, 29454792, 20167518)
Likely benign
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500095.3
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYBA - - - -

Text-mined citations for rs11547387...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021