U.S. flag

An official website of the United States government

NM_000518.5(HBB):c.*4C>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003477263.1

Allele description [Variation Report for NM_000518.5(HBB):c.*4C>T]

NM_000518.5(HBB):c.*4C>T

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.*4C>T
HGVS:
  • NC_000011.10:g.5225594G>A
  • NG_000007.3:g.72022C>T
  • NG_046672.1:g.3529G>A
  • NG_053049.1:g.1915G>A
  • NG_059281.1:g.6478C>T
  • NM_000518.5:c.*4C>TMANE SELECT
  • LRG_1232t1:c.*4C>T
  • LRG_1232:g.6478C>T
  • NC_000011.9:g.5246824G>A
  • NM_000518.4:c.*4C>T
Molecular consequence:
  • NM_000518.5:c.*4C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219841Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Mar 3, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.

Xinh PT, Chuong HQ, Ha NTT, Tram HDB, Van Dong C, Thanh LVH, Hoa NTH, Nghia H, Binh NT, Dung PC, Vu HA.

Mol Biol Rep. 2022 Apr;49(4):2601-2606. doi: 10.1007/s11033-021-07062-w. Epub 2022 Jan 13.

PubMed [citation]
PMID:
35023007

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The frequency of this variant in the general population, 0.00016 (4/24966 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in a heterozygous individual affected with mild anemia (PMID: 35023007 (2022)). Based on the available information, we are unable to determine the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 6, 2024