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NM_000518.5(HBB):c.316-3C>A AND HBB-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 17, 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:
RCV004528115.2

Allele description [Variation Report for NM_000518.5(HBB):c.316-3C>A]

NM_000518.5(HBB):c.316-3C>A

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.316-3C>A
Other names:
IVS II-848 (C>A)
HGVS:
  • NC_000011.10:g.5225729G>T
  • NG_000007.3:g.71887C>A
  • NG_046672.1:g.3664G>T
  • NG_053049.1:g.2050G>T
  • NG_059281.1:g.6343C>A
  • NM_000518.4(HBB):c.316-3C>A
  • NM_000518.5:c.316-3C>AMANE SELECT
  • LRG_1232t1:c.316-3C>A
  • LRG_1232:g.6343C>A
  • NC_000011.9:g.5246959G>T
  • NM_000518.4(HBB):c.316-3C>A
  • NM_000518.4:c.316-3C>A
Nucleotide change:
IVS2, C-A, -3
Links:
Genetic Testing Registry (GTR): GTR000500319; OMIM: 141900.0361; dbSNP: rs33913413
NCBI 1000 Genomes Browser:
rs33913413
Molecular consequence:
  • NM_000518.5:c.316-3C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
HBB-related disorder
Synonyms:
HBB-Related Disorders; HBB-related condition
Identifiers:
MedGen: CN239378

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004104878PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 17, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004104878.1

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

Description

The HBB c.316-3C>A variant is predicted to interfere with splicing. The HBB gene variant c.316-3C>A, also reported as IVS-II-848 using legacy nomenclature, has been reported in multiple individuals with beta thalassemia (el-Kalla S et al 1997. PubMed ID: 9140720; Kurtoğlu A et al 2017. PubMed ID: 28276871; Elmezayen AD et al 2015. PubMed ID: 25617386; Gonzalez-Redondo et al 1988. PubMed ID: 2458145). The c.316-3C>A variant has also been interpreted as pathogenic by different laboratories (https://www.ncbi.nlm.nih.gov/clinvar/variation/15451/). Together we classify the c.316-3C>A variant as pathogenic.

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

Last Updated: Oct 13, 2024