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NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) AND HEMOGLOBIN MONTGOMERY

Germline classification:
other (1 submission)
Last evaluated:
Sep 5, 2023
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:
RCV000016914.12

Allele description [Variation Report for NM_000517.6(HBA2):c.146T>G (p.Leu49Arg)]

NM_000517.6(HBA2):c.146T>G (p.Leu49Arg)

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.146T>G (p.Leu49Arg)
Other names:
L48R
HGVS:
  • NC_000016.10:g.173175T>G
  • NG_000006.1:g.34038T>G
  • NG_046165.1:g.2914T>G
  • NG_059186.1:g.1525T>G
  • NG_059271.1:g.5329T>G
  • NM_000517.6:c.146T>GMANE SELECT
  • NP_000508.1:p.Leu49Arg
  • LRG_1240t1:c.146T>G
  • LRG_1225:g.1525T>G
  • LRG_1240:g.5329T>G
  • LRG_1240p1:p.Leu49Arg
  • NC_000016.9:g.223174T>G
  • NM_000517.4:c.146T>G
  • P69905:p.Leu49Arg
Protein change:
L49R; LEU48ARG
Links:
UniProtKB: P69905#VAR_002767; OMIM: 141850.0013; dbSNP: rs41392146
NCBI 1000 Genomes Browser:
rs41392146
Molecular consequence:
  • NM_000517.6:c.146T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN MONTGOMERY
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037185OMIM
no assertion criteria provided
other
(Sep 5, 2023) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Huisman, T. H. J. Personal Communication. 1974. Augusta, Ga.

Help

Summary from all submissions

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

Citations

PubMed

Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).

Brimhall B, Jones RT, Schneider RG, Hosty TS, Tomlin G, Atkins R.

Biochim Biophys Acta. 1975 Jan 30;379(1):28-32.

PubMed [citation]
PMID:
1115799

First observation of Hb Montgomery [alpha 48(CD6)Leu----Arg] in Tunisia.

Mrad A, Arous N, Kastally R, Blibech R, Rosa J, Galacteros F.

Hemoglobin. 1988;12(1):67-70. No abstract available.

PubMed [citation]
PMID:
3384700
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000037185.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

See Brimhall et al. (1975), Huisman et al. (1980), and Mrad et al. (1988). The designation of this hemoglobin was changed to Hb Montgomery when it was discovered that Hb Birmingham had already been used for an alpha variant hemoglobin from Birmingham, England (Hb J Birmingham) (Schneider, 1974). This is a mutation of the HBA2 gene (Cash et al., 1989).

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

Last Updated: Nov 24, 2024