NM_000518.5(HBB):c.*56A>G AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 18, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000855595.1

Allele description [Variation Report for NM_000518.5(HBB):c.*56A>G]

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

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.*56A>G
HGVS:
  • NC_000011.10:g.5225542T>C
  • NG_000007.3:g.72074A>G
  • NG_046672.1:g.3477T>C
  • NG_053049.1:g.1863T>C
  • NG_059281.1:g.6530A>G
  • NM_000518.5:c.*56A>GMANE SELECT
  • LRG_1232t1:c.*56A>G
  • LRG_1232:g.6530A>G
  • NC_000011.9:g.5246772T>C
  • NM_000518.4:c.*56A>G
Links:
dbSNP: rs537944366
NCBI 1000 Genomes Browser:
rs537944366
Molecular consequence:
  • NM_000518.5:c.*56A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000697067Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Feb 18, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697067.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*56A>G in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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