NM_000518.5(HBB):c.93-1G>C AND beta Thalassemia

Germline classification:: Pathogenic (2 submissions)
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:: RCV001078336.14

Allele description [Variation Report for NM_000518.5(HBB):c.93-1G>C]

NM_000518.5(HBB):c.93-1G>C

Genes:

LOC106099062:HBB recombination 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.93-1G>C

Other names:

IVS I-130 G>C

HGVS:

NC_000011.10:g.5226800C>G
NG_000007.3:g.70816G>C
NG_042296.1:g.331C>G
NG_046672.1:g.4735C>G
NG_059281.1:g.5272G>C
NM_000518.5:c.93-1G>CMANE SELECT
LRG_1232t1:c.93-1G>C
LRG_1232:g.5272G>C
NC_000011.9:g.5248030C>G
NM_000518.4:c.93-1G>C
p.?

Nucleotide change:

IVS1AS, G-C, -1

Links:

OMIM: 141900.0418; dbSNP: rs33943001

NCBI 1000 Genomes Browser:

rs33943001

Molecular consequence:

NM_000518.5:c.93-1G>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244514	The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	no assertion criteria provided	Pathogenic (Nov 25, 2019)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 9140720, 1577489, 1517108 Citation Link,
SCV002089232	Natera, Inc.	no assertion criteria provided	Pathogenic (Mar 17, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244514

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

no assertion criteria provided

Pathogenic
(Nov 25, 2019)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV002089232

Natera, Inc.

no assertion criteria provided

Pathogenic
(Mar 17, 2017)

germline

clinical testing

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	clinical testing, curation

Citations

PubMed

A significant beta-thalassemia heterogeneity in the United Arab Emirates.

el-Kalla S, Mathews AR.

Hemoglobin. 1997 May;21(3):237-47.

PubMed [citation]

PMID:: 9140720

Detection of an IVS-1 3' end (G-C) beta-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject.

Renda M, Maggio A, Warren TC, Kazazian HH Jr.

Genomics. 1992 May;13(1):234-5. No abstract available.

PubMed [citation]

PMID:: 1577489

See all PubMed Citations (3)

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244514.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

#	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

From Natera, Inc., SCV002089232.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Oct 26, 2024

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