NM_000518.5(HBB):c.85dup (p.Leu29fs) AND beta Thalassemia

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Nov 6, 2014
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:: RCV000169441.14

Allele description [Variation Report for NM_000518.5(HBB):c.85dup (p.Leu29fs)]

NM_000518.5(HBB):c.85dup (p.Leu29fs)

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.85dup (p.Leu29fs)

Other names:

CD 27/28 (+C)

HGVS:

NC_000011.10:g.5226939dup
NC_000011.9:g.5248166_5248167insG
NG_000007.3:g.70679dup
NG_042296.1:g.470dup
NG_046672.1:g.4874dup
NG_059281.1:g.5135dup
NM_000518.5:c.85dupMANE SELECT
NP_000509.1:p.Leu29fs
LRG_1232t1:c.85dup
HBB:c.84_85insC
LRG_1232:g.5135dup
LRG_1232p1:p.Leu29fs
NC_000011.9:g.5248166_5248167insG
NC_000011.9:g.5248169dup
NC_000011.9:g.5248169dup
NC_000011.9:g.5248169dupG
NM_000518.4:c.85dup
NM_000518.4:c.85dupC
p.Leu29Profs*16

Protein change:

L29fs

Links:

HBVAR: 810; OMIM: 141900.0342; dbSNP: rs35532010

NCBI 1000 Genomes Browser:

rs35532010

Molecular consequence:

NM_000518.5:c.85dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000220858	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Nov 6, 2014)	unknown	literature only	PubMed (5) [See all records that cite these PMIDs] 23383304, 21599435, 25000193, 2014803, 1850955 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link,
SCV001244427	The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	no assertion criteria provided	Pathogenic (Nov 25, 2019)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 1850955, 2014803 Citation Link,
SCV002091593	Natera, Inc.	no assertion criteria provided	Pathogenic (Mar 17, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220858

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Nov 6, 2014)

unknown

literature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV001244427

The ITHANET community portal, The Cyprus Institute of Neurology and Genetics

no assertion criteria provided

Pathogenic
(Nov 25, 2019)

germline

curation

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

Citation Link,

SCV002091593

Natera, Inc.

no assertion criteria provided

Pathogenic
(Mar 17, 2017)

germline

clinical testing

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, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.

Lin M, Wen YF, Wu JR, Wang Q, Zheng L, Liu GR, Huang Y, Yang H, Lin F, Zhan XF, Lin CP, Yang HT, Weng QQ, Huang FT, Wang Y, Yao MQ, Chen HZ, Wu DH, Zeng JB, Zeng RX, Yang H, Li GC, et al.

PLoS One. 2013;8(2):e55024. doi: 10.1371/journal.pone.0055024. Epub 2013 Feb 1.

PubMed [citation]

PMID:: 23383304
PMCID:: PMC3562339

Molecular lesion frequency of hemoglobin gene disorders in Taiwan.

Liu SC, Peng CT, Lin TH, Wang SJ, Shih MC, Tien N, Chang CC, Lu JJ, Lin CY.

Hemoglobin. 2011;35(3):228-36. doi: 10.3109/03630269.2011.572524.

PubMed [citation]

PMID:: 21599435

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000220858.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

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

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244427.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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

From Natera, Inc., SCV002091593.1

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

#	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: Sep 16, 2024

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