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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001244514The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Pathogenic
(Nov 25, 2019)
germlinecuration

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

Citation Link,

SCV002089232Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 17, 2017)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV002089232.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024