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NM_000518.5(HBB):c.*48T>C AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000781435.1

Allele description [Variation Report for NM_000518.5(HBB):c.*48T>C]

NM_000518.5(HBB):c.*48T>C

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.*48T>C
HGVS:
  • NC_000011.10:g.5225550A>G
  • NG_000007.3:g.72066T>C
  • NG_046672.1:g.3485A>G
  • NG_053049.1:g.1871A>G
  • NG_059281.1:g.6522T>C
  • NM_000518.5:c.*48T>CMANE SELECT
  • LRG_1232t1:c.*48T>C
  • LRG_1232:g.6522T>C
  • NC_000011.9:g.5246780A>G
  • NM_000518.4:c.*48T>C
Links:
dbSNP: rs759337708
NCBI 1000 Genomes Browser:
rs759337708
Molecular consequence:
  • NM_000518.5:c.*48T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000919455Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 4, 2018) 		germlineclinical testing

Citation Link

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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, SCV000919455.1

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

Description

Variant summary: HBB c.*48T>C is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 2.4e-05 in 245892 control chromosomes. 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.*48T>C in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. 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: Apr 23, 2022