NM_000518.5(HBB):c.316C>T (p.Leu106Phe) AND HEMOGLOBIN SOUTH MILWAUKEE

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:: RCV000016738.4

Allele description [Variation Report for NM_000518.5(HBB):c.316C>T (p.Leu106Phe)]

NM_000518.5(HBB):c.316C>T (p.Leu106Phe)

Genes:

LOC110006319:beta-globin gene 3' regulatory 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_000518.5(HBB):c.316C>T (p.Leu106Phe)

Other names:

L105F

HGVS:

NC_000011.10:g.5225726G>A
NG_000007.3:g.71890C>T
NG_046672.1:g.3661G>A
NG_053049.1:g.2047G>A
NG_059281.1:g.6346C>T
NM_000518.5:c.316C>TMANE SELECT
NP_000509.1:p.Leu106Phe
LRG_1232t1:c.316C>T
LRG_1232:g.6346C>T
LRG_1232p1:p.Leu106Phe
NC_000011.9:g.5246956G>A
NM_000518.4:c.316C>T

Protein change:

L106F; LEU105PHE

Links:

OMIM: 141900.0391; dbSNP: rs34022507

NCBI 1000 Genomes Browser:

rs34022507

Molecular consequence:

NM_000518.5:c.316C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN SOUTH MILWAUKEE
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037008	OMIM	no assertion criteria provided	other (Dec 12, 2017)	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

SCV000037008

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

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 south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity.

Honig GR, Vida LN, Latorraca R, Divgi AB.

Am J Hematol. 1990 Jul;34(3):199-203.

PubMed [citation]

PMID:: 2363414

Details of each submission

From OMIM, SCV000037008.4

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

Description

In 4 generations of a family of English ancestry, Honig et al. (1990) found 15 persons with erythrocytosis. Elevated hemoglobin levels were accompanied by leftward-shifted whole blood oxygen equilibrium curves. Phlebotomies for relief of symptoms attributable to erythrocytosis had been necessary in 5 of the affected family members. In the affected individuals, 43% of the beta chains contained a leucine-to-phenylalanine substitution at position 105. Oxygen equilibrium curves demonstrated normal Bohr effect but decreased cooperativity.

#	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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