ClinVar Genomic variation as it relates to human health
NM_000517.6(HBA2):c.207C>R (p.Asn69Lys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000517.6(HBA2):c.207C>R (p.Asn69Lys)
Variation ID: 15638 Accession: VCV000015638.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 173236 (GRCh38) [ NCBI UCSC ] 16: 223235 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Sep 2, 2023 Aug 30, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000517.6:c.207C>R MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000508.1:p.Asn69Lys missense NC_000016.10:g.173236C>R NC_000016.9:g.223235C>R NG_046165.1:g.2975C>R NG_059186.1:g.1586C>R NG_059271.1:g.5390C>R LRG_1225:g.1586C>R LRG_1240:g.5390C>R LRG_1240t1:c.207C>R LRG_1240p1:p.Asn69Lys - Protein change
- N69K
- Other names
- N68K
- Canonical SPDI
- NC_000016.10:173235:C:R
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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HBA2 | - | - |
GRCh38 GRCh37 |
4 | 341 | |
LOC106804612 | - | - | - | GRCh38 | - | 278 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016916.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016917.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016922.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016923.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016924.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016918.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016920.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016919.8 | |
other (1) |
no assertion criteria provided
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Aug 30, 2023 | RCV000016921.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN G (BRISTOL)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000037187.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN D (BALTIMORE)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000037188.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN D (ST. LOUIS)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000037189.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN G (AZAKUOLI)
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000037191.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN G (KNOXVILLE)
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000037192.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN D (WASHINGTON)
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000037190.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN KNOXVILLE-1
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000037194.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN STANLEYVILLE-I
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000037195.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
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other
(Aug 30, 2023)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN G (PHILADELPHIA)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000037193.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 02, 2023 |
Comment on evidence:
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), … (more)
See Dherte et al. (1959), Atwater et al. (1960), Raper et al. (1960), Baglioni and Ingram (1961), Gammack et al. (1961), Huehns and Shooter (1961), McCurdy et al. (1961), Minnich et al. (1962), Weatherall et al. (1962), Dance et al. (1964), Chernoff and Pettit (1965), Schroeder and Jones (1965), Sancar et al. (1980), Surrey et al. (1980), Bruzdzinski et al. (1984), and Morle et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989). (less)
|
Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val). | Cash FE | Blood | 1989 | PMID: 2752146 |
Alpha-globin gene deletions associated with alpha A and alpha G Philadelphia in an Algerian family that includes two Hb G homozygotes. | Morle F | Human genetics | 1984 | PMID: 6199285 |
The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome. | Bruzdzinski CJ | American journal of human genetics | 1984 | PMID: 6198906 |
Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions. | Sancar GB | Proceedings of the National Academy of Sciences of the United States of America | 1980 | PMID: 6935689 |
Linkage of alpha G-Philadelphia to alpha-thalassemia in African-Americans . | Surrey S | Proceedings of the National Academy of Sciences of the United States of America | 1980 | PMID: 6933536 |
THE AMINO ACID COMPOSITION OF HEMOGLOBIN. VI. SEPARATION OF THE TRYPTIC PEPTIDES OF HEMOGLOBIN KNOXVILLE NO. I ON DOWEX-I X-2 AND SEPHADEX. | CHERNOFF AI | Biochimica et biophysica acta | 1965 | PMID: 14289041 |
Some aspects of the chemistry and function of human and animal hemoglobins. | Schroeder WA | Fortschritte der Chemie organischer Naturstoffe = Progress in the chemistry of organic natural products. Progres dans la chimie des substances organiques naturelles | 1965 | PMID: 5324987 |
THE CHEMICAL INVESTIGATION OF HAEMOGLOBINS GBRISTOL AND GBRISTO C. | DANCE N | Biochimica et biophysica acta | 1964 | PMID: 14166851 |
Alpha, beta and gamma hemoglobin polypeptide chains during the neonatal period with description of a fetal form of hemoglobin Da-St. Louis. | MINNICH V | Blood | 1962 | PMID: 14474345 |
Four hemoglobins in each of three brothers. Genetic and biochemical significance. | WEATHER ALL DJ | Bulletin of the Johns Hopkins Hospital | 1962 | PMID: 13999302 |
The polypeptide chains of haemoglobin-A2 and haemoglobin-G2. | HUEHNS ER | Journal of molecular biology | 1961 | PMID: 13716549 |
The abnormal polypeptide chains in a number of haemoglobin variants. | GAMMACK DB | Acta genetica et statistica medica | 1961 | PMID: 13703277 |
Abnormal human haemoglobins. V. Chemical investigation of haemoglobins A, G, C, X from one individual. | BAGLIONI C | Biochimica et biophysica acta | 1961 | PMID: 13685865 |
A variety of human hemoglobin with 4 distinct electrophoretic components. | ATWATER J | Blood | 1960 | PMID: 13795009 |
Four haemoglobins in one individual. A study of the genetic interaction of Hb-G and Hb-C. | RAPER AB | British medical journal | 1960 | PMID: 13739559 |
Stanleyville I and II: two new variants of adult haemoglobin. | DHERTE P | British medical journal | 1959 | PMID: 13816361 |
McCurdy, P. R., Pearson, H., Gerald, P. S. A new hemoglobinopathy of unusual genetic significance. J. Lab. Clin. Med. 58: 86-94, 1961. | - | - | - | - |
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Text-mined citations for rs111033601 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.