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NM_000518.5(HBB):c.*56A>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 26, 2021)
Last evaluated:
Feb 18, 2021
Accession:
VCV000495968.5
Variation ID:
495968
Description:
single nucleotide variant
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NM_000518.5(HBB):c.*56A>G

Allele ID
487309
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5225542 (GRCh38) GRCh38 UCSC
11: 5246772 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.5225542T>C
NC_000011.9:g.5246772T>C
NM_000518.5:c.*56A>G MANE Select 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:5225541:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00040
1000 Genomes Project 0.00040
Links
ClinGen: CA217112125
dbSNP: rs537944366
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000588701.5
Uncertain significance 1 criteria provided, single submitter Feb 18, 2021 RCV000855595.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBB - - GRCh38
GRCh37
45 1290
LOC107133510 - - - GRCh38 - 1223
LOC110006319 - - - GRCh38 - 573

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 02, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000883983.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The HBB c.*56A>G variant (rs537944366) has not been reported in the medical literature but is classified as a variant of uncertain significance by one laboratory … (more)
Uncertain significance
(Feb 18, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697067.2
Submitted: (Feb 26, 2021)
Evidence details
Comment:
Variant summary: HBB c.*56A>G is located in the untranslated mRNA region downstream of the termination codon. The variant was absent in 251040 control chromosomes (gnomAD). … (more)
Likely benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001090565.3
Submitted: (Jan 07, 2021)
Evidence details

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.

Text-mined citations for rs537944366...

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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 Jun 14, 2021