NM_000518.5(HBB):c.316-3C>G AND Beta zero thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1992
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:: RCV000016767.28

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

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

Other names:

IVS II-848 (C>G)

HGVS:

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

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS2AS, -3, C-G

Links:

OMIM: 141900.0416; dbSNP: rs33913413

NCBI 1000 Genomes Browser:

rs33913413

Molecular consequence:

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

Condition(s)

Name:: Beta zero thalassemia
Identifiers:: MedGen: C0271980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037037	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1992)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1634368, 2920213

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037037

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1992)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).

Hattori Y, Yamamoto K, Yamashiro Y, Ohba Y, Miyamura S, Yamamoto K, Matsuno Y, Morishita M, Miyaji T, Era T.

Hemoglobin. 1992;16(1-2):93-7. No abstract available.

PubMed [citation]

PMID:: 1634368

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

Wong C, Antonarakis SE, Goff SC, Orkin SH, Forget BG, Nathan DG, Giardina PJ, Kazazian HH Jr.

Blood. 1989 Mar;73(4):914-8.

PubMed [citation]

PMID:: 2920213

Details of each submission

From OMIM, SCV000037037.2

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

Description

Hattori et al. (1992) identified this mutation in a Japanese patient with beta-zero-thalassemia (613985). The abnormality was a substitution of guanine for cytosine at nucleotide 848 of IVS2. This nucleotide is at position -3 in the acceptor splice sequence. A C-to-A mutation at the same site in an Iranian patient had been reported by Wong et al. (1989); see 141900.0362.

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

Last Updated: Oct 8, 2022

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