NM_000518.5(HBB):c.315+16G>C AND beta Thalassemia

Clinical significance:Benign/Likely benign (Last evaluated: Jul 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000736020.6

Allele description [Variation Report for NM_000518.5(HBB):c.315+16G>C]

NM_000518.5(HBB):c.315+16G>C

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.315+16G>C
Other names:
IVS-II-16 G<C; IVS II-16 (G>C)
HGVS:
  • NC_000011.10:g.5226561C>G
  • NG_000007.3:g.71055G>C
  • NG_042296.1:g.92C>G
  • NG_046672.1:g.4496C>G
  • NG_053049.1:g.2882C>G
  • NG_059281.1:g.5511G>C
  • NM_000518.5:c.315+16G>CMANE SELECT
  • LRG_1232t1:c.315+16G>C
  • LRG_1232:g.5511G>C
  • NC_000011.9:g.5247791C>G
  • NM_000518.4:c.315+16G>C
Links:
dbSNP: rs10768683
NCBI 1000 Genomes Browser:
rs10768683
Molecular consequence:
  • NM_000518.5:c.315+16G>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000864063College of Science, Al Muthanna University,Al Muthanna Universityno assertion criteria providedBenign
(Jan 1, 2018)
germlineresearch

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

SCV001138215Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001244634The ITHANET community portal, The Cyprus Institute of Neurology and Geneticsno assertion criteria providedBenign
(Nov 25, 2019)
germlinecuration

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV001453776Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

SCV001749167Nilou-Genome Labcriteria provided, single submitter
Benign
(Jul 1, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Arabic Iraqigermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Clinical Laboratory Manifestation and Molecular Diagnosis of β-Thalassemia Patients in Iraq.

AlMosawi RHN, Al-Rashedi NAM, Ayoub NI.

J Pediatr Hematol Oncol. 2020 Jan;42(1):27-31. doi: 10.1097/MPH.0000000000001656.

PubMed [citation]
PMID:
31714438

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS, Biswal S, Dixit M.

Hemoglobin. 2014;38(1):33-8. doi: 10.3109/03630269.2013.837394. Epub 2013 Oct 7.

PubMed [citation]
PMID:
24099628
See all PubMed Citations (8)

Details of each submission

From College of Science, Al Muthanna University,Al Muthanna University, SCV000864063.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arabic Iraqinot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001138215.1

#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, SCV001244634.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001453776.1

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

From Nilou-Genome Lab, SCV001749167.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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