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NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Dec 11, 2020)
Last evaluated:
Jun 4, 2020
Accession:
VCV000015635.5
Variation ID:
15635
Description:
single nucleotide variant
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NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)

Allele ID
30674
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 172961 (GRCh38) GRCh38 UCSC
16: 222960 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.172961A>G
NC_000016.9:g.222960A>G
NM_000517.6:c.49A>G MANE Select NP_000508.1:p.Lys17Glu missense
... more HGVS
Protein change
K17E
Other names
K16E
Hb I-Burlington
Hb I-Philadelphia
Hb I-Skamania
Hb I-Texas
Canonical SPDI
NC_000016.10:172960:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
HBVAR: 19
ClinGen: CA125567
OMIM: 141850.0011
dbSNP: rs281865555
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, 2018 RCV000985727.1
Likely benign 1 criteria provided, single submitter Jun 4, 2020 RCV001000515.2
HEMOGLOBIN I
other 1 no assertion criteria provided Mar 28, 2013 RCV000016905.1
HEMOGLOBIN I (BURLINGTON)
other 1 no assertion criteria provided Mar 28, 2013 RCV000016906.1
HEMOGLOBIN I (PHILADELPHIA)
other 1 no assertion criteria provided Mar 28, 2013 RCV000016907.1
HEMOGLOBIN I (SKAMANIA)
other 1 no assertion criteria provided Mar 28, 2013 RCV000016908.1
HEMOGLOBIN I (TEXAS)
other 1 no assertion criteria provided Mar 28, 2013 RCV000016909.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBA2 - - GRCh38
GRCh37
18 305
LOC106804612 - - - GRCh38 - 215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001134200.2
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (5)
Likely benign
(Jun 04, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157421.2
Submitted: (Dec 11, 2020)
Evidence details
other
(Mar 28, 2013)
no assertion criteria provided
Method: literature only
HEMOGLOBIN I
Allele origin: germline
OMIM
Accession: SCV000037176.1
Submitted: (Mar 28, 2013)
Evidence details
Publications
PubMed (1)
other
(Mar 28, 2013)
no assertion criteria provided
Method: literature only
HEMOGLOBIN I (BURLINGTON)
Allele origin: germline
OMIM
Accession: SCV000037177.1
Submitted: (Mar 28, 2013)
Evidence details
Publications
PubMed (1)
other
(Mar 28, 2013)
no assertion criteria provided
Method: literature only
HEMOGLOBIN I (PHILADELPHIA)
Allele origin: germline
OMIM
Accession: SCV000037178.1
Submitted: (Mar 28, 2013)
Evidence details
Publications
PubMed (1)
other
(Mar 28, 2013)
no assertion criteria provided
Method: literature only
HEMOGLOBIN I (SKAMANIA)
Allele origin: germline
OMIM
Accession: SCV000037179.1
Submitted: (Mar 28, 2013)
Evidence details
Publications
PubMed (1)
other
(Mar 28, 2013)
no assertion criteria provided
Method: literature only
HEMOGLOBIN I (TEXAS)
Allele origin: germline
OMIM
Accession: SCV000037180.1
Submitted: (Mar 28, 2013)
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
The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes. Molchanova TP British journal of haematology 1994 PMID: 7803274
Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome. Liebhaber SA Science (New York, N.Y.) 1984 PMID: 6505702
Study of abnormal hemoglobin in Ehime, Japan: two structural variants of hemoglobin A (Hb I and Hb J Iran) and structural and synthetic variants of delta chain. Saito S Jinrui idengaku zasshi. The Japanese journal of human genetics 1984 PMID: 6085353
Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families. Fleming PJ Pathology 1978 PMID: 740406
Diminished synthesis of an alpha chain mutant, hemoglobin I (alpha-16 lys leads to glu). Esan GJ The Journal of clinical investigation 1970 PMID: 5480848

Text-mined citations for rs281865555...

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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