NM_000518.5(HBB):c.337T>C (p.Cys113Arg) AND Heinz body anemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 25, 1991
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:: RCV000016393.29

Allele description [Variation Report for NM_000518.5(HBB):c.337T>C (p.Cys113Arg)]

NM_000518.5(HBB):c.337T>C (p.Cys113Arg)

Genes:

LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.337T>C (p.Cys113Arg)

Other names:

C112R

HGVS:

NC_000011.10:g.5225705A>G
NG_000007.3:g.71911T>C
NG_046672.1:g.3640A>G
NG_053049.1:g.2026A>G
NG_059281.1:g.6367T>C
NM_000518.5:c.337T>CMANE SELECT
NP_000509.1:p.Cys113Arg
LRG_1232t1:c.337T>C
LRG_1232:g.6367T>C
LRG_1232p1:p.Cys113Arg
NC_000011.9:g.5246935A>G
P68871:p.Cys113Arg

Protein change:

C113R; CYS112ARG

Links:

UniProtKB: P68871#VAR_003035; OMIM: 141900.0117; dbSNP: rs35849199

NCBI 1000 Genomes Browser:

rs35849199

Molecular consequence:

NM_000518.5:c.337T>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

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unnamed protein product, partial [Homo sapiens]
unnamed protein product, partial [Homo sapiens]
gi|16549947|dbj|BAB70891.1|

Protein
BioAssay by Target (List) for Gene (Select 91355) (13)
PubChem BioAssay
txid498019[orgn] AND "isolate VPCI 469/P/14"[All Fields] (1)
PopSet
Candida/Metschnikowiaceae internal transcribed spacer 1, partial sequence; 5.8S ...
Candida/Metschnikowiaceae internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence.
PopSet: 796690884

PopSet
Takifugu rubripes caveolin 2 (cav2), mRNA
Takifugu rubripes caveolin 2 (cav2), mRNA
gi|281371394|ref|NM_001170355.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036661	OMIM	no assertion criteria provided	Pathogenic (Mar 25, 1991)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 721609, 3781865, 5698750, 2005117 Adams, J. G., Boxer, L. A., Baehner, R. L., Forget, B. G., Tsistrokis, G. A., Steinberg, M. H. Hemoglobin Indianapolis: post-translational degradation of an unstable beta-chain variant producing a phenotype of severe heterozygous beta-thalassemia. (Abstract) Clin. Res. 26: 501A, 1978.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036661

OMIM

no assertion criteria provided

Pathogenic
(Mar 25, 1991)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

Adams, J. G., Boxer, L. A., Baehner, R. L., Forget, B. G., Tsistrokis, G. A., Steinberg, M. H. Hemoglobin Indianapolis: post-translational degradation of an unstable beta-chain variant producing a phenotype of severe heterozygous beta-thalassemia. (Abstract) Clin. Res. 26: 501A, 1978.

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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

Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain.

Adams JG 3rd, Przywara KP, Heller P, Shamsuddin M.

Hemoglobin. 1978;2(5):403-15. No abstract available.

PubMed [citation]

PMID:: 721609

A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain.

Baiget M, Gomez Pereira C, Jue DL, Johnson MH, McGuffey JE, Moo-Penn WF.

Hemoglobin. 1986;10(5):483-94.

PubMed [citation]

PMID:: 3781865

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036661.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

Adams et al. (1978, 1979) studied father and daughter with a clinical picture of beta-thalassemia which was due to labile beta-chains resulting in Heinz body formation in normoblasts. The changes in the beta-chains were posttranslational. Baiget et al. (1986) and De Biasi et al. (1988) described 2 new families with the cys112-to-arg mutation. In these families the carriers were not anemic, had normal chromic and normocytic red cells, and displayed only mild reticulocytosis. This prompted Coleman et al. (1991) to restudy the original family with the finding that the mutation in fact was leu106-to-arg. In order to avoid confusion, they renamed the original mutation Hb Terre Haute (see 141900.0398).

#	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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