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NM_000518.5(HBB):c.92_94dup (p.Arg31dup) AND beta Thalassemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001078385.2

Allele description [Variation Report for NM_000518.5(HBB):c.92_94dup (p.Arg31dup)]

NM_000518.5(HBB):c.92_94dup (p.Arg31dup)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
Duplication
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.92_94dup (p.Arg31dup)
Other names:
CD 30/31 +CGG [+Arg]
HGVS:
  • NC_000011.10:g.5226797_5226798insGCC
  • NC_000011.10:g.5226798_5226800dup
  • NG_000007.3:g.70816_70818dup
  • NG_042296.1:g.329_331dup
  • NG_046672.1:g.4733_4735dup
  • NG_059281.1:g.5272_5274dup
  • NM_000518.5:c.93-1_94dupMANE SELECT
  • LRG_1232t1:c.93-1_94dup
  • HBB:c.93_94insCGG
  • LRG_1232:g.5272_5274dup
  • NC_000011.9:g.5248028_5248030dup
  • NM_000518.4:c.93_94insCGG
  • NM_000518.5:c.94_95insGGCMANE SELECT
Links:
HBVAR: 836; OMIM: 141900.0468; dbSNP: rs35348864
NCBI 1000 Genomes Browser:
rs35348864
Molecular consequence:
  • NM_000518.5:c.93-1_94dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
beta Thalassemia (BTHAL)
Synonyms:
Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:
MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244586The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Pathogenic
(Nov 25, 2019) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

The dominant beta-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon ( = arginine) at the 5' end of the second exon.

Arjona SN, Eloy-Garcia JM, Gu LH, Smetanina NS, Huisman TH.

Br J Haematol. 1996 Jun;93(4):841-4.

PubMed [citation]
PMID:
8703815

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244586.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024