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NM_000517.6(HBA2):c.242T>G (p.Leu81Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Dec 16, 2019
Accession:
VCV000993412.1
Variation ID:
993412
Description:
single nucleotide variant
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NM_000517.6(HBA2):c.242T>G (p.Leu81Arg)

Allele ID
981941
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 173271 (GRCh38) GRCh38 UCSC
16: 223270 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.173271T>G
NC_000016.9:g.223270T>G
NM_000517.6:c.242T>G MANE Select NP_000508.1:p.Leu81Arg missense
... more HGVS
Protein change
L81R
Other names
-
Canonical SPDI
NC_000016.10:173270:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 16, 2019 RCV001284977.1
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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
16 304
LOC106804612 - - - GRCh38 - 216

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 16, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001471079.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The Hb Ann Arbor variant (HBA2: c.242T>G; p.Leu81Arg, also known as Leu80Arg when numbered from the mature protein rs281864863) is reported in the literature in … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 30, 2021