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NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) 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:
RCV001078329.2

Allele description [Variation Report for NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)]

NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)

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:
Insertion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)
Other names:
CD 116 (+TGAT)
HGVS:
  • NC_000011.10:g.5225692_5225693insATCA
  • NG_000007.3:g.71923_71924insTGAT
  • NG_046672.1:g.3627_3628insATCA
  • NG_053049.1:g.2013_2014insATCA
  • NG_059281.1:g.6379_6380insTGAT
  • NM_000518.5:c.349_350insTGATMANE SELECT
  • NP_000509.1:p.His117fs
  • LRG_1232t1:c.349_350insTGAT
  • LRG_1232:g.6379_6380insTGAT
  • LRG_1232p1:p.His117fs
  • NC_000011.9:g.5246922_5246923insATCA
Protein change:
H117fs
Links:
dbSNP: rs63751306
NCBI 1000 Genomes Browser:
rs63751306
Molecular consequence:
  • NM_000518.5:c.349_350insTGAT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001244499The 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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia.

Frischknecht H, Kiewitz R, Schmugge M.

Haematologica. 2005 Nov;90 Suppl:ECR20.

PubMed [citation]
PMID:
16266911

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244499.1

#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: Oct 8, 2022