NM_000518.5(HBB):c.315+1del 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:: RCV001078423.2

Allele description [Variation Report for NM_000518.5(HBB):c.315+1del]

NM_000518.5(HBB):c.315+1del

Genes:

LOC106099062:HBB recombination region [Gene]
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

Deletion

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.315+1del

Other names:

CD 104 (-G)

HGVS:

NC_000011.10:g.5226576del
NC_000011.10:g.5226578del
NG_000007.3:g.71040del
NG_042296.1:g.109del
NG_046672.1:g.4513del
NG_053049.1:g.2899del
NG_059281.1:g.5496del
NM_000518.5:c.315+1delMANE SELECT
LRG_1232t1:c.315+1del
LRG_1232:g.5496del
NC_000011.9:g.5247808del

Links:

dbSNP: rs63750774

NCBI 1000 Genomes Browser:

rs63750774

Molecular consequence:

NM_000518.5:c.315+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244635	The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	no assertion criteria provided	Pathogenic (Nov 25, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244635

The ITHANET community portal, The Cyprus Institute of Neurology and Genetics

no assertion criteria provided

Pathogenic
(Nov 25, 2019)

germline

curation

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Codon 104(-G), a dominant beta0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors.

Lahr G, Brintrup J, Over S, Feurle GE, Debatin KM, Kohne E.

Haematologica. 2007 Sep;92(9):1264-5.

PubMed [citation]

PMID:: 17768122

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244635.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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