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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037227	OMIM	no assertion criteria provided	other (Oct 13, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037227

OMIM

no assertion criteria provided

other
(Oct 13, 2016)

germline

literature only

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

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

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	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: Apr 23, 2022

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