NM_000518.5(HBB):c.217dup (p.Ser73fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 2, 2016
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:: RCV002426508.9

Allele description [Variation Report for NM_000518.5(HBB):c.217dup (p.Ser73fs)]

NM_000518.5(HBB):c.217dup (p.Ser73fs)

Genes:

LOC106099062:HBB recombination 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.217dup (p.Ser73fs)

Other names:

CD 71/72 (+A)

HGVS:

NC_000011.10:g.5226675dup
NC_000011.9:g.5247905dupT
NG_000007.3:g.70940_70941insA
NG_000007.3:g.70941dup
NG_042296.1:g.206dup
NG_046672.1:g.4610dup
NG_053049.1:g.2996dup
NG_059281.1:g.5397dup
NM_000518.5:c.217dupMANE SELECT
NP_000509.1:p.Ser73fs
LRG_1232t1:c.217dup
HBB:c.216_217insA
LRG_1232:g.5397dup
LRG_1232p1:p.Ser73fs
NC_000011.9:g.5247904_5247905insT
NC_000011.9:g.5247905dup
NC_000011.9:g.5247905dup
NG_000007.3:g.70940_70941insA
NM_000518.4:c.216_217insA
NM_000518.4:c.217dupA
p.Ser73Lysfs*2

Protein change:

S73fs

Links:

Genetic Testing Registry (GTR): GTR000500319; HBVAR: 869; OMIM: 141900.0328; dbSNP: rs33969853

NCBI 1000 Genomes Browser:

rs33969853

Molecular consequence:

NM_000518.5:c.217dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002727311	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 2, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002727311

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 2, 2016)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH Jr.

Proc Natl Acad Sci U S A. 1984 May;81(9):2821-5.

PubMed [citation]

PMID:: 6585831
PMCID:: PMC345162

Details of each submission

From Ambry Genetics, SCV002727311.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.217dupA pathogenic mutation (also known as codons 71/72 insertion A), located in coding exon 2 of the HBB gene, results from a duplication of A at nucleotide position 217, causing a translational frameshift with a predicted alternate stop codon (p.S73Kfs*2). This variant was identified previously in a homozygous individual with beta-thalassemia (Cheng TC et al. Proc. Natl. Acad. Sci. U.S.A., 1984 May;81:2821-5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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