NM_000518.5(HBB):c.93-23T>C AND beta Thalassemia

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000030010.4

Allele description [Variation Report for NM_000518.5(HBB):c.93-23T>C]

NM_000518.5(HBB):c.93-23T>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.93-23T>C
Other names:
IVS I-108 T>C
HGVS:
  • NC_000011.10:g.5226822A>G
  • NG_000007.3:g.70794T>C
  • NG_042296.1:g.353A>G
  • NG_046672.1:g.4757A>G
  • NG_059281.1:g.5250T>C
  • NM_000518.5:c.93-23T>CMANE SELECT
  • LRG_1232t1:c.93-23T>C
  • LRG_1232:g.5250T>C
  • NC_000011.9:g.5248052A>G
  • NM_000518.4:c.93-23T>C
Links:
dbSNP: rs111851677
NCBI 1000 Genomes Browser:
rs111851677
Molecular consequence:
  • NM_000518.5:c.93-23T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
16

Condition(s)

Name:
beta Thalassemia (BTHAL)
Synonyms:
Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:
MedGen: C0005283; Orphanet: 848; OMIM: 613985

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052665Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
uncertain
(Aug 18, 2011)
germlineclinical testing

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

Citation Link,

SCV001138220Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001244517The ITHANET community portal, The Cyprus Institute of Neurology and Geneticsno assertion criteria providedBenign
(Nov 25, 2019)
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown16not providednot providednot providednot providedclinical testing, curation
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of a new polymorphism, IVS-I-108 (T-->C), and a new beta-thalassemia mutation, -27 (A-->T), discovered in the course of a prenatal diagnosis.

Badens C, Jassim N, Martini N, Mattei JF, Elion J, Lena-Russo D.

Hemoglobin. 1999 Nov;23(4):339-44.

PubMed [citation]
PMID:
10569722

The molecular heterogeneity of beta-thalassemia in Greece.

Boussiou M, Karababa P, Sinopoulou K, Tsaftaridis P, Plata E, Loutradi-Anagnostou A.

Blood Cells Mol Dis. 2008 May-Jun;40(3):317-9. Epub 2007 Dec 21.

PubMed [citation]
PMID:
18096416
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052665.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
2not providednot providednot providednot providedclinical testing PubMed (1)
3not providednot providednot providednot providedclinical testing PubMed (1)
4not providednot providednot providednot providedclinical testing PubMed (1)
5not providednot providednot providednot providedclinical testing PubMed (1)
6not providednot providednot providednot providedclinical testing PubMed (1)
7not providednot providednot providednot providedclinical testing PubMed (1)
8not providednot providednot providednot providedclinical testing PubMed (1)
9not providednot providednot providednot providedclinical testing PubMed (1)
10not providednot providednot providednot providedclinical testing PubMed (1)
11not providednot providednot providednot providedclinical testing PubMed (1)
12not providednot providednot providednot providedclinical testing PubMed (1)
13not providednot providednot providednot providedclinical testing PubMed (1)
14not providednot providednot providednot providedclinical testing PubMed (1)
15not providednot providednot providednot providedclinical testing PubMed (1)
16not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 1
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3
4germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 4
5germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 5
6germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 6
7germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 7
8germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 8
9germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 9
10germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 10
11germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 11
12germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 12
13germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 13
14germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 14
15germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 15
16germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 16

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
2SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
3SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
4SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
5SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
6SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
7SingleHeterozygoteHBB:c.316-185C>T, HBB:c.315+16G>C1
8SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
9SingleHeterozygoteHBB:c.315+16G>C, HBB:c.316-185C>T1
10SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C, HBB:c.324C>T1
11SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C, HBB:c.-79A>G1
12SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
13SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
14SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C, HBB:c.-79A>G1
15SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1
16SingleHeterozygoteHBB:c.9T>C, HBB:c.316-185C>T, HBB:c.315+16G>C1

From Mendelics, SCV001138220.1

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

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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