NM_000517.4(HBA2):c.142G>C (p.Asp48His) AND HEMOGLOBIN SINAI

Germline classification:: other (1 submission)
Last evaluated:: May 21, 2018
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:: RCV000016912.11

Allele description [Variation Report for NM_000517.4(HBA2):c.142G>C (p.Asp48His)]

NM_000517.4(HBA2):c.142G>C (p.Asp48His)

Genes:

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_000517.4(HBA2):c.142G>C (p.Asp48His)

Other names:

D47H; Hb L-Ferrara; Hb Michigan-I; Hb Michigan-II; Hb Sealy; Hb Sinai

HGVS:

NC_000016.10:g.173171G>C
NG_000006.1:g.34034G>C
NG_046165.1:g.2910G>C
NG_059186.1:g.1521G>C
NG_059271.1:g.5325G>C
NM_000517.6:c.142G>CMANE SELECT
NP_000508.1:p.Asp48His
LRG_1240t1:c.142G>C
LRG_1225:g.1521G>C
LRG_1240:g.5325G>C
LRG_1240p1:p.Asp48His
NC_000016.9:g.223170G>C
NM_000517.4:c.142G>C
P69905:p.Asp48His

Protein change:

D48H; ASP47HIS

Links:

HBVAR: 65; UniProtKB: P69905#VAR_002765; OMIM: 141850.0012; dbSNP: rs281864834

NCBI 1000 Genomes Browser:

rs281864834

Molecular consequence:

NM_000517.6:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN SINAI
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037183	OMIM	no assertion criteria provided	other (May 21, 2018)	germline	literature only	PubMed (8) [See all records that cite these PMIDs] 13968068, 5587575, 5713624, 5780195, 5794113, 620088, 7110343, 2752146 Silvestroni, E., Bianco, I., Lucci, R., Soffritti, E. Presence of hemoglobin 'L' in natives of Ferrara and of hemoglobin 'D' in natives of Bologna. Acta Genet. Med. Gemellol. 9: 472-496, 1960.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037183

OMIM

no assertion criteria provided

other
(May 21, 2018)

germline

literature only

PubMed (8)
[See all records that cite these PMIDs]

Silvestroni, E., Bianco, I., Lucci, R., Soffritti, E. Presence of hemoglobin 'L' in natives of Ferrara and of hemoglobin 'D' in natives of Bologna. Acta Genet. Med. Gemellol. 9: 472-496, 1960.

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

Alternation in the alpha-chain of haemoglobin L-Ferrara.

BIANCO I, MODIANO G, BOTTINI E, LUCCI R.

Nature. 1963 Apr 27;198:395-6. No abstract available.

PubMed [citation]

PMID:: 13968068

Hemoglobin hasharon (alpha-47 aspartic acid--histidine).

Halbrecht I, Isaacs WA, Lehmann H, Ben-Porat F.

Isr J Med Sci. 1967 Nov-Dec;3(6):827-31. No abstract available.

PubMed [citation]

PMID:: 5587575

See all PubMed Citations (8)

Details of each submission

From OMIM, SCV000037183.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (8)

Description

See Silvestroni et al. (1960, 1960), Bianco et al. (1963), Halbrecht et al. (1967), Ostertag and Smith (1968), Charache et al. (1969), Nagel et al. (1969), Lehmann and Vella (1974), Tentori (1977), and Pich et al. (1978). The family in which hemoglobin Sealy was found was Ashkenazi (Schneider et al., 1968). (Hemoglobin Beilinson was also found in an Ashkenazi Jewish family and has a substitution of glycine for aspartic acid at alpha 47.) See Benesch et al. (1982). This is a mutation of the HBA2 gene (Cash et al., 1989).

#	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: Oct 26, 2024

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