NM_000518.5(HBB):c.-122T>A 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:
RCV001078393.10

Allele description [Variation Report for NM_000518.5(HBB):c.-122T>A]

NM_000518.5(HBB):c.-122T>A

Genes:
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC106099062:HBB recombination region [Gene]
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.-122T>A
Other names:
-72 T>A
HGVS:
  • NC_000011.10:g.5227143A>T
  • NG_000007.3:g.70473T>A
  • NG_042296.1:g.674A>T
  • NG_046672.1:g.5078A>T
  • NG_059281.1:g.4929T>A
  • NM_000518.5:c.-122T>AMANE SELECT
  • LRG_1232t1:c.-122T>A
  • LRG_1232:g.4929T>A
  • NC_000011.9:g.5248373A>T
  • NC_000011.9:g.5248373A>T
  • NM_000518.4:c.-122T>A
Links:
dbSNP: rs1272414751
NCBI 1000 Genomes Browser:
rs1272414751
Molecular consequence:
  • NM_000518.5:c.-122T>A - upstream transcript variant - [Sequence Ontology: SO:0001986]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244595The 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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA(2) in a Vietnamese Heterozygote.

Pirastru M, Mereu P, Nguyen CQ, Nguyen NV, Nguyen TD, Manca L.

Biomed Res Int. 2017;2017:4537409. doi: 10.1155/2017/4537409. Epub 2017 Apr 19.

PubMed [citation]
PMID:
28503568
PMCID:
PMC5414490

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244595.1

#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: Jun 23, 2024