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NM_000518.5(HBB):c.323dup (p.Asn109fs) AND beta Thalassemia

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 3, 2017
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:
RCV000589491.11

Allele description [Variation Report for NM_000518.5(HBB):c.323dup (p.Asn109fs)]

NM_000518.5(HBB):c.323dup (p.Asn109fs)

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:
Duplication
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.323dup (p.Asn109fs)
Other names:
CD 106/107 (+G)
HGVS:
  • NC_000011.10:g.5225721dup
  • NG_000007.3:g.71897dup
  • NG_046672.1:g.3656dup
  • NG_053049.1:g.2042dup
  • NG_059281.1:g.6353dup
  • NM_000518.5:c.323dupMANE SELECT
  • NP_000509.1:p.Asn109fs
  • LRG_1232t1:c.323dup
  • HBB:c.321_322insG
  • LRG_1232:g.6353dup
  • LRG_1232p1:p.Asn109fs
  • NC_000011.9:g.5246948_5246949insC
  • NC_000011.9:g.5246951dup
  • NM_000518.4:c.323dup
  • NM_000518.4:c.323dupG
  • p.Asn109Glnfs*32
Protein change:
N109fs
Links:
HBVAR: 945; OMIM: 141900.0329; dbSNP: rs35225141
NCBI 1000 Genomes Browser:
rs35225141
Molecular consequence:
  • NM_000518.5:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000697119Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Jul 3, 2017) 		germlineclinical testing

PubMed (13)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001244495The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Pathogenic
(Nov 25, 2019) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.

Shammas C, Papasavva T, Felekis X, Christophorou C, Roomere H, Synodinos JT, Kanavakis E, El-Khateeb M, Hamamy H, Mahmoud T, Shboul M, El Beshlawy A, Filon D, Hussein IR, Galanello R, Romeo G, Kleanthous M.

Clin Chem Lab Med. 2010 Dec;48(12):1713-8. doi: 10.1515/CCLM.2010.331. Epub 2010 Aug 13.

PubMed [citation]
PMID:
20704537

Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.

Edison ES, Shaji RV, Devi SG, Moses A, Viswabandhya A, Mathews V, George B, Srivastava A, Chandy M.

Clin Genet. 2008 Apr;73(4):331-7. doi: 10.1111/j.1399-0004.2008.00973.x. Epub 2008 Feb 20.

PubMed [citation]
PMID:
18294253
See all PubMed Citations (15)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (13)

Description

Variant summary: The c.323dupG (p.Asn109Glnfs) variant in HBB gene is a frameshift change that is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population dataset of ExAC, but is present at a low frequency in gnomAD dataset (0.000007; 2/276928 chrs tested), which does not exceed exceed the estimated maximal expected allele frequency of a pathogenic variant (0.011). The variant has been reported in several affected individuals presented with b-thalassemia major via published reports and is cited by reputable databases/clinical laboratories as Pathogenic. Taking together, the variant was classified as Pathogenic.

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

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024