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NM_000518.5(HBB):c.174C>A (p.Asn58Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 30, 2017)
Last evaluated:
Dec 19, 2016
Accession:
VCV000015172.3
Variation ID:
15172
Description:
single nucleotide variant
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NM_000518.5(HBB):c.174C>A (p.Asn58Lys)

Allele ID
30211
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5226718 (GRCh38) GRCh38 UCSC
11: 5247948 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P68871:p.Asn58Lys
NC_000011.10:g.5226718G>T
NC_000011.9:g.5247948G>T
... more HGVS
Protein change
N58K
Other names
N57K
Canonical SPDI
NC_000011.10:5226717:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA124855
UniProtKB: P68871#VAR_002948
OMIM: 141900.0082
dbSNP: rs35278874
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 19, 2016 RCV000506437.2
HEMOGLOBIN G (FERRARA)
other 1 no assertion criteria provided Dec 12, 2017 RCV000016347.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBB - - GRCh38
GRCh37
45 1293
LOC106099062 - - - GRCh38 - 702
LOC107133510 - - - GRCh38 - 1226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 19, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603936.1
Submitted: (Jun 30, 2017)
Evidence details
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN G (FERRARA)
Allele origin: germline
OMIM
Accession: SCV000036615.4
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
Properties of hemoglobin G. Ferrara (beta57(E1) Asn replaced by Lys). Giardina B Biochimica et biophysica acta 1978 PMID: 26414

Text-mined citations for rs35278874...

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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 11, 2021