NM_000517.6(HBA2):c.309C>A (p.Ser103Arg) AND HEMOGLOBIN MANITOBA

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:
RCV000016957.12

Allele description [Variation Report for NM_000517.6(HBA2):c.309C>A (p.Ser103Arg)]

NM_000517.6(HBA2):c.309C>A (p.Ser103Arg)

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_000517.6(HBA2):c.309C>A (p.Ser103Arg)
Other names:
S102R; Hb Manitoba III
HGVS:
  • NC_000016.10:g.173480C>A
  • NG_000006.1:g.34343C>A
  • NG_046165.1:g.3219C>A
  • NG_059186.1:g.1830C>A
  • NG_059271.1:g.5634C>A
  • NM_000517.6:c.309C>AMANE SELECT
  • NP_000508.1:p.Ser103Arg
  • LRG_1240t1:c.309C>A
  • HBA2:c.309C>A
  • LRG_1225:g.1830C>A
  • LRG_1240:g.5634C>A
  • LRG_1240p1:p.Ser103Arg
  • NC_000016.9:g.223479C>A
  • NM_000517.4:c.309C>A
  • P69905:p.Ser103Arg
Protein change:
S103R; SER102ARG
Links:
HBVAR: 1121; UniProtKB: P69905#VAR_002819; OMIM: 141850.0047; dbSNP: rs41344646
NCBI 1000 Genomes Browser:
rs41344646
Molecular consequence:
  • NM_000517.6:c.309C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN MANITOBA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037229OMIM
no assertion criteria provided
other
(May 21, 2018) 		germlineliterature only

PubMed (3)
[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

alpha 102(G9) serine replaced by arginine.

Crookston JH, Farquharson HA, Kinderlerer JL, Lehmann H HEMOGLOBIN MA.

Can J Biochem. 1970 Aug;48(8):911-4. No abstract available.

PubMed [citation]
PMID:
5452728

The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography.

Sciarratta GV, Ivaldi G, Molaro GL, Sansone G, Salkie ML, Wilson JB, Reese AL, Huisman TH.

Hemoglobin. 1984;8(2):169-81.

PubMed [citation]
PMID:
6547932
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000037229.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Hb Manitoba (ser102 to arg) was discovered in a Canadian family by Crookston et al. (1970) and was subsequently found in an Italian patient by Sciarratta et al. (1984). Chang et al. (2001) observed the same variant for the first time in an Asian family in Taiwan.

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

Last Updated: Jun 23, 2024