NM_000518.4(HBB):c.86T>A (p.Leu29Gln) AND HEMOGLOBIN ST. LOUIS

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:: RCV000016611.5

Allele description [Variation Report for NM_000518.4(HBB):c.86T>A (p.Leu29Gln)]

NM_000518.4(HBB):c.86T>A (p.Leu29Gln)

Genes:

LOC106099062:HBB recombination 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_000518.4(HBB):c.86T>A (p.Leu29Gln)

Other names:

L28Q

HGVS:

NC_000011.10:g.5226936A>T
NG_000007.3:g.70680T>A
NG_042296.1:g.467A>T
NG_046672.1:g.4871A>T
NG_059281.1:g.5136T>A
NM_000518.5:c.86T>AMANE SELECT
NP_000509.1:p.Leu29Gln
LRG_1232t1:c.86T>A
LRG_1232:g.5136T>A
LRG_1232p1:p.Leu29Gln
NC_000011.9:g.5248166A>T
P68871:p.Leu29Gln

Protein change:

L29Q; LEU28GLN

Links:

HBVAR: 284; UniProtKB: P68871#VAR_035236; OMIM: 141900.0268; dbSNP: rs33916412

NCBI 1000 Genomes Browser:

rs33916412

Molecular consequence:

NM_000518.5:c.86T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN ST. LOUIS
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036880	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 4281476, 4808645, 186485, 3557999

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036880

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

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

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

"In vitro" normal biosynthesis of an unstable ferri-hemoglobin: hemoglobin Saint Louis B10 (beta28) leu yields gln.

Cohen-Solal M, Lebeau M, Rosa J.

Nouv Rev Fr Hematol. 1974 Sep-Oct;14(5):621-6. No abstract available.

PubMed [citation]

PMID:: 4281476

Hemoglobin San Diego (beta 109 (G11) val--met). Crystal structure of the deoxy form.

Anderson NL.

J Clin Invest. 1974 Jan;53(1):329-33.

PubMed [citation]

PMID:: 4808645
PMCID:: PMC301468

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036880.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

This is a form of Hb M, differing from other Hb M variants by the fact that the substitution is not for the histidine at E7 or F8. Hb M (Milwaukee) is another. Severe Heinz body anemia, in addition to methemoglobinemia, is associated with Hb St. Louis. The beta heme group is permanently in a ferric state. See Cohen-Solal et al. (1974), Anderson (1976), Thillet et al. (1976), and Wiedermann et al. (1986).

#	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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