U.S. flag

An official website of the United States government

NM_000518.5(HBB):c.316-3C>G 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:
RCV001078322.2

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 Thalassemia (BTHAL)
Synonyms:
Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:
MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244490The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Pathogenic
(Nov 25, 2019) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

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

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244490.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2022