NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) AND Heinz body anemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1995
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:: RCV000203221.2

Allele description [Variation Report for NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)]

NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)

Genes:

HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)

Other names:

L136P; Hb Bibba

HGVS:

NC_000016.10:g.173581T>C
NG_000006.1:g.34444T>C
NG_046165.1:g.3320T>C
NG_059186.1:g.1931T>C
NG_059271.1:g.5735T>C
NM_000517.6:c.410T>CMANE SELECT
NP_000508.1:p.Leu137Pro
LRG_1240t1:c.410T>C
LRG_1225:g.1931T>C
LRG_1240:g.5735T>C
LRG_1240p1:p.Leu137Pro
NC_000016.9:g.223580T>C
NM_000517.4:c.410T>C
P69905:p.Leu137Pro

Protein change:

L137P; LEU136PRO

Links:

HBVAR: 204; UniProtKB: P69905#VAR_002847; OMIM: 141800.0011; OMIM: 141850.0030; dbSNP: rs41469945

NCBI 1000 Genomes Browser:

rs41469945

Molecular consequence:

NM_000517.6:c.410T>C - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037213	OMIM	no assertion criteria provided	Pathogenic (May 1, 1995)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7558871, 5639009

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037213

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1995)

germline

literature only

PubMed (2)
[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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.

Prchal JT, Adler B, Wilson JB, Baysal E, Qin WB, Molchanova TP, Pobedimskaya DD, Kazanetz EG, Huisman TH.

Hemoglobin. 1995 May-Jul;19(3-4):151-64.

PubMed [citation]

PMID:: 7558871

Hemoglobin-Bibba or alpha-2-136Pro-beta 2, an unstable alpha chain abnormal hemoglobin.

Kleihauer EF, Reynolds CA, Dozy AM, Wilson JB, Moores RR, Berenson MP, Wright CS, Huisman TH.

Biochim Biophys Acta. 1968 Jan 22;154(1):220-2. No abstract available.

PubMed [citation]

PMID:: 5639009

Details of each submission

From OMIM, SCV000037213.1

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

Description

In a large Caucasian family, Prchal et al. (1995) found that members with congenital Heinz body hemolytic anemia were carriers of Hb Bibba. Instability of the variant complicated isolation of the protein from shipped blood samples. The mutation at codon 136 of the alpha-2 gene resulted in a change from CTG to CCG and a leu136-to-pro substitution. The first Hb Bibba heterozygote, characterized in 1968 by Kleihauer et al. (1968), was believed to be a member of this family. The clinical expression of the disease was surprisingly variable in severity. Affected persons in 4 generations of the Alabama family had been observed. (Please note that the mutation here is located in the HBA2 gene rather than in the HBA1 gene, as previously indicated in 141800.0011.)

#	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: Dec 17, 2022

ClinVar

Relating variation to medicine