NM_000518.5(HBB):c.127_129del (p.Phe43del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 11, 2021
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:: RCV001800300.1

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)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002046643	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Feb 11, 2021)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 2599881, 8824225, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002046643

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Feb 11, 2021)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

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

Hb Bruxelles, deletion of Phebeta42, shows a low oxygen affinity and low cooperativity of ligand binding.

Griffon N, Badens C, Lena-Russo D, Kister J, Bardakdjian J, Wajcman H, Marden MC, Poyart C.

J Biol Chem. 1996 Oct 18;271(42):25916-20.

PubMed [citation]

PMID:: 8824225

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046643.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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

Last Updated: Apr 23, 2022

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