NM_000518.5(HBB):c.314G>C (p.Arg105Thr) AND HEMOGLOBIN SHERWOOD FOREST

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000016597.4

Allele description [Variation Report for NM_000518.5(HBB):c.314G>C (p.Arg105Thr)]

NM_000518.5(HBB):c.314G>C (p.Arg105Thr)

Genes:

LOC106099062:HBB recombination region [Gene]
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.314G>C (p.Arg105Thr)

Other names:

R104T; Hb Sherwood Forest

HGVS:

NC_000011.10:g.5226578C>G
NG_000007.3:g.71038G>C
NG_042296.1:g.109C>G
NG_046672.1:g.4513C>G
NG_053049.1:g.2899C>G
NG_059281.1:g.5494G>C
NM_000518.5:c.314G>CMANE SELECT
NP_000509.1:p.Arg105Thr
LRG_1232t1:c.314G>C
LRG_1232:g.5494G>C
LRG_1232p1:p.Arg105Thr
NC_000011.9:g.5247808C>G
NM_000518.4:c.314G>C
P68871:p.Arg105Thr

Protein change:

R105T; ARG104THR

Links:

HBVAR: 472; UniProtKB: P68871#VAR_003029; OMIM: 141900.0261; dbSNP: rs33911434

NCBI 1000 Genomes Browser:

rs33911434

Molecular consequence:

NM_000518.5:c.314G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN SHERWOOD FOREST
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036866	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 590504, 7918091

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036866

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

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

Haemoglobin Sherwood Forest beta104 (G6) Arg replaced by Thr.

Ryrie DR, Plowman D, Lehmann H.

FEBS Lett. 1977 Nov 15;83(2):260-2. No abstract available.

PubMed [citation]

PMID:: 590504

Polycythaemia associated with homozygosity for the abnormal haemoglobin Sherwood Forest (beta 104 (G6)Arg-->Thr).

Williamson D, Beresford CH, Langdown JV, Anderson CC, Green AR.

Br J Haematol. 1994 Apr;86(4):890-2.

PubMed [citation]

PMID:: 7918091

Details of each submission

From OMIM, SCV000036866.4

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

Description

See Ryrie et al. (1977).

Williamson et al. (1994) described a 22-year-old Pakistani male with polycythemia associated with homozygosity for this high-affinity hemoglobin mutant. Whereas 2 previously reported persons with the mutant hemoglobin were heterozygotes and were hematologically normal, the homozygous state was associated with compensatory erythrocytosis resulting from decreased delivery of oxygen to the tissues. Both parents and both sibs were heterozygous for the hemoglobin mutant and were hematologically normal. This may have been the first example of a beta-globin mutation producing polycythemia in homozygotes, but not in heterozygotes.

#	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: Mar 4, 2023

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