NM_000518.5(HBB):c.316-7C>G AND beta Thalassemia

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 25, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000445651.3

Allele description [Variation Report for NM_000518.5(HBB):c.316-7C>G]

NM_000518.5(HBB):c.316-7C>G

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.316-7C>G

Other names:

IVS2-844C>G

HGVS:

NC_000011.10:g.5225733G>C
NG_000007.3:g.71883C>G
NG_046672.1:g.3668G>C
NG_053049.1:g.2054G>C
NG_059281.1:g.6339C>G
NM_000518.5:c.316-7C>GMANE SELECT
LRG_1232t1:c.316-7C>G
LRG_1232:g.6339C>G
NC_000011.9:g.5246963G>C
NM_000518.4:c.316-7C>G

Links:

dbSNP: rs34483965

NCBI 1000 Genomes Browser:

rs34483965

Molecular consequence:

NM_000518.5:c.316-7C>G - 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
SCV000537298	GeneReviews	no classification provided	not provided	germline	literature only
SCV000791082	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 25, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 7819068, 2001456 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537298

GeneReviews

no classification provided

not provided

germline

literature only

SCV000791082

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 25, 2017)

unknown

clinical testing

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

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	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.

Rosatelli MC, Pischedda A, Meloni A, Saba L, Pomo A, Travi M, Fattore S, Cao A.

Br J Haematol. 1994 Nov;88(3):562-5.

PubMed [citation]

PMID:: 7819068

Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations.

Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta GV, Agosti S, Parodi MI, Cerruti P, Cao A, Pirastu M.

Blood. 1991 Mar 15;77(6):1342-7.

PubMed [citation]

PMID:: 2001456

Details of each submission

From GeneReviews, SCV000537298.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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

From Counsyl, SCV000791082.1

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

#	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

Last Updated: Sep 29, 2024

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