NM_000558.3(HBA1):c.278G>T (p.Arg93Leu) AND Erythrocytosis, familial, 7

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1983
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:: RCV000641142.1

Allele description [Variation Report for NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)]

NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)

Other names:

R92L

HGVS:

NC_000016.10:g.177111G>T
NG_000006.1:g.37974G>T
NG_046166.1:g.2594G>T
NG_059186.1:g.5461G>T
NM_000558.5:c.278G>TMANE SELECT
NP_000549.1:p.Arg93Leu
LRG_1225t1:c.278G>T
LRG_1225:g.5461G>T
LRG_1225p1:p.Arg93Leu
NC_000016.9:g.227110G>T

Protein change:

R93L; ARG92LEU

Links:

HBVAR: 148; OMIM: 141800.0018; dbSNP: rs33991779

NCBI 1000 Genomes Browser:

rs33991779

Molecular consequence:

NM_000558.5:c.278G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Erythrocytosis, familial, 7
Synonyms:: ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE; POLYCYTHEMIA, ALPHA-GLOBIN TYPE; ERYTHROCYTOSIS 7
Identifiers:: MONDO: MONDO:0054802; MedGen: C4693823; OMIM: 617981

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000762764	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1983)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 5967288, 6188720, 5913291

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000762764

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1983)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).

Clegg JB, Naughton MA, Weatherball DJ.

J Mol Biol. 1966 Aug;19(1):91-108. No abstract available.

PubMed [citation]

PMID:: 5967288

Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity.

Harano T, Harano K, Shibata S, Ueda S, Imai K, Seki M.

Hemoglobin. 1983;7(1):85-90. No abstract available.

PubMed [citation]

PMID:: 6188720

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000762764.1

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

Description

See Clegg et al. (1966) and Harano et al. (1983). Polycythemia (ECYT7; 617981) is the only clinical feature. This was the first polycythemia-producing variant to be described (Charache et al., 1966).

#	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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