NM_000518.5(HBB):c.316-3C>A AND beta Thalassemia

Germline classification:: Pathogenic/Likely pathogenic (3 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:: RCV000984183.13

Allele description [Variation Report for NM_000518.5(HBB):c.316-3C>A]

NM_000518.5(HBB):c.316-3C>A

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.316-3C>A

Other names:

IVS II-848 (C>A)

HGVS:

NC_000011.10:g.5225729G>T
NG_000007.3:g.71887C>A
NG_046672.1:g.3664G>T
NG_053049.1:g.2050G>T
NG_059281.1:g.6343C>A
NM_000518.4(HBB):c.316-3C>A
NM_000518.5:c.316-3C>AMANE SELECT
LRG_1232t1:c.316-3C>A
LRG_1232:g.6343C>A
NC_000011.9:g.5246959G>T
NM_000518.4(HBB):c.316-3C>A
NM_000518.4:c.316-3C>A

Nucleotide change:

IVS2, C-A, -3

Links:

Genetic Testing Registry (GTR): GTR000500319; OMIM: 141900.0361; dbSNP: rs33913413

NCBI 1000 Genomes Browser:

rs33913413

Molecular consequence:

NM_000518.5:c.316-3C>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001132217	Counsyl	no assertion criteria provided	Likely pathogenic (Nov 17, 2015)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 25825561, 17365006, 25155404, 2458145, 2920213, 25480500, 8477263
SCV001244489	The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	no assertion criteria provided	Pathogenic (Nov 25, 2019)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 2920213, 2458145 Citation Link,
SCV002089192	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

SCV001132217

Counsyl

no assertion criteria provided

Likely pathogenic
(Nov 17, 2015)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV001244489

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

no assertion criteria provided

Pathogenic
(Nov 25, 2019)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002089192

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Novel Βeta (β)-Thalassemia Mutation in Turkish Children.

Ulasli M, Oztuzcu S, Kirkbes S, Bay A, Igci YZ, Bayraktar R, Igci M, Ergun S, Cakmak EA, Aytekin E, Arslan A.

Indian J Hematol Blood Transfus. 2015 Jun;31(2):218-22. doi: 10.1007/s12288-014-0380-6. Epub 2014 Apr 11.

PubMed [citation]

PMID:: 25825561
PMCID:: PMC4375154

Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients.

El-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A.

Hemoglobin. 2007;31(1):63-9.

PubMed [citation]

PMID:: 17365006

See all PubMed Citations (7)

Details of each submission

From Counsyl, SCV001132217.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

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

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244489.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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., SCV002089192.1

#	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: Apr 20, 2025

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