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NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Jul 24, 2020
Accession:
VCV000015765.3
Variation ID:
15765
Description:
single nucleotide variant
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NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)

Allele ID
30804
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 176733 (GRCh38) GRCh38 UCSC
16: 226732 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.176733C>A
NC_000016.9:g.226732C>A
NM_000558.5:c.17C>A MANE Select NP_000549.1:p.Ala6Asp missense
... more HGVS
Protein change
A6D
Other names
A5D
Canonical SPDI
NC_000016.10:176732:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA125793
UniProtKB: P69905#VAR_002721
OMIM: 141800.0078
dbSNP: rs34090856
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 24, 2018 RCV000759776.1
Uncertain significance 1 criteria provided, single submitter Jul 24, 2020 RCV001002194.2
HEMOGLOBIN J (TORONTO)
other 1 no assertion criteria provided Jul 20, 2016 RCV000017076.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBA1 - - GRCh38
GRCh37
14 367
LOC106804613 - - - GRCh38 1 284

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889340.1
Submitted: (Aug 31, 2018)
Evidence details
Uncertain significance
(Jul 24, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001160067.2
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The Hb J Toronto variant (HBA1 c.17C>A; p.Ala6Asp, also known as or Ala5Asp when numbered from the mature protein, rs34090856) is reported in the literature … (more)
other
(Jul 20, 2016)
no assertion criteria provided
Method: literature only
HEMOGLOBIN J (TORONTO)
Allele origin: germline
OMIM
Accession: SCV000037348.2
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (1)

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
A new haemoglobin, J Toronto (alpha-5 alanine to aspartic acid). Crookston JH Nature 1965 PMID: 5870555

Text-mined citations for rs34090856...

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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 Jan 25, 2021