NM_000518.5(HBB):c.349C>T (p.His117Tyr) AND HEMOGLOBIN TSUKUMI

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:: RCV000016849.3

Allele description [Variation Report for NM_000518.5(HBB):c.349C>T (p.His117Tyr)]

NM_000518.5(HBB):c.349C>T (p.His117Tyr)

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.349C>T (p.His117Tyr)

HGVS:

NC_000011.10:g.5225693G>A
NG_000007.3:g.71923C>T
NG_046672.1:g.3628G>A
NG_053049.1:g.2014G>A
NG_059281.1:g.6379C>T
NM_000518.5:c.349C>TMANE SELECT
NP_000509.1:p.His117Tyr
LRG_1232t1:c.349C>T
LRG_1232:g.6379C>T
LRG_1232p1:p.His117Tyr
NC_000011.9:g.5246923G>A

Protein change:

H117Y; HIS117TYR

Links:

OMIM: 141900.0494; dbSNP: rs34049764

NCBI 1000 Genomes Browser:

rs34049764

Molecular consequence:

NM_000518.5:c.349C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN TSUKUMI
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037119	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10870882, 11300344

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037119

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

PubMed (2)
[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

Hb Tsukumi [beta117(G19)His-->Tyr]: a new hemoglobin variant found in a Japanese male.

Oribe Y, Hamaguchi K, Kusuda Y, Harano K, Harano T, Iwasaki Y, Kotegawa K, Sakata T.

Hemoglobin. 2000 May;24(2):117-23.

PubMed [citation]

PMID:: 10870882

Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan woman.

North ML, Duwig I, Riou J, Promé D, Yapo AP, Kister J, Bardakdjian-Michau J, Cazenave JP, Wajcman H.

Hemoglobin. 2001 Feb;25(1):107-10. No abstract available.

PubMed [citation]

PMID:: 11300344

Details of each submission

From OMIM, SCV000037119.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Oribe et al. (2000) found a new hemoglobin variant in a Japanese male: a change at codon 117 of the HBB gene from CAC (his) to TAC (tyr). The authors designated this variant Hb Tsukumi after the patient's place of residence. Two other hemoglobin variants have a change in his117: a change to arg in the case of Hb P (Galveston) (141900.0213), and a change to pro in the case of Hb Saitama (141900.0250).

North et al. (2001) found Hb Tsukumi in a Moroccan woman.

#	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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