NM_000518.5(HBB):c.-31C>T AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755548.3

Allele description [Variation Report for NM_000518.5(HBB):c.-31C>T]

NM_000518.5(HBB):c.-31C>T

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.-31C>T
Other names:
CAP +20 C>T
HGVS:
  • NC_000011.10:g.5227052G>A
  • NG_000007.3:g.70564C>T
  • NG_042296.1:g.583G>A
  • NG_046672.1:g.4987G>A
  • NG_059281.1:g.5020C>T
  • NM_000518.5:c.-31C>TMANE SELECT
  • LRG_1232t1:c.-31C>T
  • LRG_1232:g.5020C>T
  • NC_000011.9:g.5248282G>A
  • NM_000518.4:c.-31C>T
Links:
dbSNP: rs63750628
NCBI 1000 Genomes Browser:
rs63750628
Molecular consequence:
  • NM_000518.5:c.-31C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000888153Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Sep 11, 2018)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.

Sirdah MM, Sievertsen J, Al-Yazji MS, Tarazi IS, Al-Haddad RM, Horstmann RD, Timmann C.

Blood Cells Mol Dis. 2013 Apr;50(4):247-51. doi: 10.1016/j.bcmd.2012.12.004. Epub 2013 Jan 12.

PubMed [citation]
PMID:
23321370

A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia.

Gonzalez-Redondo JM, Stoming TA, Kutlar A, Kutlar F, Lanclos KD, Howard EF, Fei YJ, Aksoy M, Altay C, Gurgey A, et al.

Blood. 1989 May 1;73(6):1705-11.

PubMed [citation]
PMID:
2713503
See all PubMed Citations (9)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888153.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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