NM_000518.5(HBB):c.*110T>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 29, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000506540.5

Allele description [Variation Report for NM_000518.5(HBB):c.*110T>C]

NM_000518.5(HBB):c.*110T>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.*110T>C
Other names:
AACAAA
HGVS:
  • NC_000011.10:g.5225488A>G
  • NG_000007.3:g.72128T>C
  • NG_046672.1:g.3423A>G
  • NG_053049.1:g.1809A>G
  • NG_059281.1:g.6584T>C
  • NM_000518.4(HBB):c.*110T>C
  • NM_000518.5:c.*110T>CMANE SELECT
  • LRG_1232t1:c.*110T>C
  • LRG_1232:g.6584T>C
  • NC_000011.9:g.5246718A>G
  • NM_000518.4(HBB):c.*110T>C
  • NM_000518.4:c.*110T>C
Nucleotide change:
3-UNT, T-C, +3
Links:
Genetic Testing Registry (GTR): GTR000500319; OMIM: 141900.0382; dbSNP: rs33978907
NCBI 1000 Genomes Browser:
rs33978907
Molecular consequence:
  • NM_000518.5:c.*110T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000601229Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Jun 30, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV000946427Invitaecriteria provided, single submitter
Pathogenic
(Mar 29, 2020)
germlineclinical testing

PubMed (6)
[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

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

A mild thalassemia major resulting from a compound heterozygosity for the IVS-II-1 (G----A) mutation and the rare T----C mutation at the polyadenylation site.

Altay C, Gurgey A, Oner R, Kutlar A, Kutlar F, Huisman TH.

Hemoglobin. 1991;15(4):327-30. No abstract available.

PubMed [citation]
PMID:
1787101
See all PubMed Citations (7)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV000946427.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change falls in the 3'UTR of the HBB gene. It does not change the encoded amino acid sequence of the HBB protein. This variant has been observed in several individuals affected with beta-thalassemia (PMID: 1787101, 4018033, 22690826, 22335963, 23590658). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 36332). Experimental studies have shown that this sequence change disrupts the recognition signal for normal endonucleolytic cleavage and polyadenylation of mRNA transcripts and results in an elongated RNA molecule (PMID: 4018033). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

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