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NM_000517.6(HBA2):c.200T>C (p.Leu67Pro) AND HEMOGLOBIN DARTMOUTH

Germline classification:
other (1 submission)
Last evaluated:
Oct 13, 2016
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:
RCV000016955.3

Allele description [Variation Report for NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)]

NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)

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.200T>C (p.Leu67Pro)
Other names:
L66P
HGVS:
  • NC_000016.10:g.173229T>C
  • NG_000006.1:g.34092T>C
  • NG_046165.1:g.2968T>C
  • NG_059186.1:g.1579T>C
  • NG_059271.1:g.5383T>C
  • NM_000517.6:c.200T>CMANE SELECT
  • NP_000508.1:p.Leu67Pro
  • LRG_1240t1:c.200T>C
  • LRG_1225:g.1579T>C
  • LRG_1240:g.5383T>C
  • LRG_1240p1:p.Leu67Pro
  • NC_000016.9:g.223228T>C
Protein change:
L67P; LEU66PRO
Links:
OMIM: 141850.0045; dbSNP: rs41323248
NCBI 1000 Genomes Browser:
rs41323248
Molecular consequence:
  • NM_000517.6:c.200T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN DARTMOUTH
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037227OMIM
no assertion criteria provided
other
(Oct 13, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.

McBride KL, Snow K, Kubik KS, Fairbanks VF, Hoyer JD, Fairweather RB, Chaffee S, Edwards WH.

Hemoglobin. 2001 Nov;25(4):375-82.

PubMed [citation]
PMID:
11791870

Details of each submission

From OMIM, SCV000037227.2

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

Description

McBride et al. (2001) reported a mutation in monozygotic twins and designated it Hb Dartmouth, after the medical center at which the patients were cared for. The mother, of Khmer ancestry, was heterozygous for alpha-thalassemia-1 due to deletion of both HBA1 and HBA2, common in Southeast Asians. The father, of Scottish-Irish ancestry, was a silent carrier of a leu66-to-pro mutation of the HBA2 gene. The twins had severe neonatal anemia requiring transfusion and were compound heterozygotes for the 2 mutations.

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

Last Updated: Apr 23, 2022