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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036866OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2023