NM_000518.5(HBB):c.127_129del (p.Phe43del) AND Heinz body anemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1989
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000016278.28

Allele description [Variation Report for NM_000518.5(HBB):c.127_129del (p.Phe43del)]

NM_000518.5(HBB):c.127_129del (p.Phe43del)

Genes:

LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

Deletion

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.127_129del (p.Phe43del)

Other names:

Hb Bruxelles

HGVS:

NC_000011.10:g.5226763_5226765del
NG_000007.3:g.70851_70853del
NG_042296.1:g.294_296del
NG_046672.1:g.4698_4700del
NG_059281.1:g.5307_5309del
NM_000518.5:c.127_129delMANE SELECT
NP_000509.1:p.Phe43del
LRG_1232t1:c.127_129del
LRG_1232:g.5307_5309del
LRG_1232p1:p.Phe43del
NC_000011.9:g.5247993_5247995del
NM_000518.4:c.127_129del

Protein change:

F43del; PHE41DEL OR PHE42DEL

Links:

HBVAR: 724; OMIM: 141900.0033; dbSNP: rs41417446

NCBI 1000 Genomes Browser:

rs41417446

Molecular consequence:

NM_000518.5:c.127_129del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Heinz body anemia
Synonyms:: Heinz body anemias; Heinz body hemolytic anemia
Identifiers:: MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036546	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1989)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036546

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1989)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted.

Blouquit Y, Bardakdjian J, Lena-Russo D, Arous N, Perrimond H, Orsini A, Rosa J, Galacteros F.

Hemoglobin. 1989;13(5):465-74.

PubMed [citation]

PMID:: 2599881

Details of each submission

From OMIM, SCV000036546.2

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

Description

Blouquit et al. (1989) demonstrated that hemoglobin Bruxelles, a beta-globin variant associated with severe congenital Heinz body anemia, has a deletion of 1 of the 2 adjacent phenylalanines, either phe41 or phe42. Other deletions affecting the phe41 or phe42 have been described. The nucleotide sequence of normal beta-globin mRNA is highly repetitive in the region of codons 41 to 46. Blouquit et al. (1989) suggested that the mutation originated through a frameshift mechanism.

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

Last Updated: Apr 23, 2022

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