NM_000518.5(HBB):c.190C>T (p.His64Tyr) AND HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1995
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:: RCV000641524.1

Allele description [Variation Report for NM_000518.5(HBB):c.190C>T (p.His64Tyr)]

NM_000518.5(HBB):c.190C>T (p.His64Tyr)

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_000518.5(HBB):c.190C>T (p.His64Tyr)

Other names:

H63Y; Hb M-Saskatoon; Hb Hörlein-Weber; Hb Leipzig; Hb M-Arhus; Hb M-Chicago; Hb M-Emory; Hb M-Erlangen; Hb M-Hamburg; Hb M-Hida; Hb M-Kurume; Hb M-Radom; Hb Novi Sad

HGVS:

NC_000011.10:g.5226702G>A
NG_000007.3:g.70914C>T
NG_042296.1:g.233G>A
NG_046672.1:g.4637G>A
NG_059281.1:g.5370C>T
NM_000518.5:c.190C>TMANE SELECT
NP_000509.1:p.His64Tyr
LRG_1232t1:c.190C>T
LRG_1232:g.5370C>T
LRG_1232p1:p.His64Tyr
NC_000011.9:g.5247932G>A
NM_000518.4:c.190C>T
P68871:p.His64Tyr

Protein change:

H64Y; HIS63TYR

Links:

HBVAR: 359; UniProtKB: P68871#VAR_002957; OMIM: 141900.0165; dbSNP: rs33922873

NCBI 1000 Genomes Browser:

rs33922873

Molecular consequence:

NM_000518.5:c.190C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE
Identifiers:

Recent activity

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PREDICTED: Homo sapiens EGF domain specific O-linked N-acetylglucosamine transfe...
PREDICTED: Homo sapiens EGF domain specific O-linked N-acetylglucosamine transferase (EOGT), transcript variant X10, mRNA
gi|2217343458|ref|XM_047448004.1|

Nucleotide
PREDICTED: Homo sapiens EGF domain specific O-linked N-acetylglucosamine transfe...
PREDICTED: Homo sapiens EGF domain specific O-linked N-acetylglucosamine transferase (EOGT), transcript variant X15, mRNA
gi|2462589270|ref|XM_054346265.1|

Nucleotide
PREDICTED: Homo sapiens EGF domain specific O-linked N-acetylglucosamine transfe...
PREDICTED: Homo sapiens EGF domain specific O-linked N-acetylglucosamine transferase (EOGT), transcript variant X2, mRNA
gi|2462589244|ref|XM_054346252.1|

Nucleotide
RecName: Full=EGF domain-specific O-linked N-acetylglucosamine transferase; AltN...
RecName: Full=EGF domain-specific O-linked N-acetylglucosamine transferase; AltName: Full=Extracellular O-linked N-acetylglucosamine transferase; Flags: Precursor
gi|74708096|sp|Q5NDL2.1|EOGT_HUMAN

Protein
Alafia whytei (0)
Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000763166	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1995)	germline	literature only	PubMed (15) [See all records that cite these PMIDs] 20324533, 18105244, 13509426, 13634986, 13897827, 5856115, 13911805, 14452533, 5851873, 14343445, 5996551, 4413625, 1163074, 6248489, 7663000 Heller, P., Coleman, R. D., Yakulis, V. Hemoglobin M (Hyde Park): a new variant of abnormal methemoglobin in a Negro. (Abstract) J. Clin. Invest. 45: 1021, 1966.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000763166

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1995)

germline

literature only

PubMed (15)
[See all records that cite these PMIDs]

Heller, P., Coleman, R. D., Yakulis, V. Hemoglobin M (Hyde Park): a new variant of abnormal methemoglobin in a Negro. (Abstract) J. Clin. Invest. 45: 1021, 1966.

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

HEREDITARY CYANOSIS.

Baltzan DM, Sugarman H.

Can Med Assoc J. 1950 Apr;62(4):348-50. No abstract available.

PubMed [citation]

PMID:: 20324533
PMCID:: PMC1591883

About chronic familial methemoglobinemia and a new modification of methemoglobin.

HORLEIN H, WEBER G.

Dtsch Med Wochenschr. 1948 Oct 15;73(39-40):476-8. German. No abstract available.

PubMed [citation]

PMID:: 18105244

See all PubMed Citations (15)

Details of each submission

From OMIM, SCV000763166.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (15)

Description

This was the abnormal hemoglobin in the family with autosomal dominant cyanosis (617971) reported by Baltzan and Sugarman (1950). See Horlein and Weber (1948), Heck and Wolf (1958), Gerald and George (1959), Gerald and Efron (1961), Shibata et al. (1961, 1965), Heller (1962), Josephson et al. (1962), Hanada et al. (1964), Murawski et al. (1965), Hobolth (1965), Betke et al. (1966), Efremov et al. (1974), Kohne et al. (1975), and Baine et al. (1980). Suryantoro et al. (1995) described the his63-to-tyr mutation in an Indonesian boy with methemoglobinemia and mild hemolysis. The mutation was inherited from the mother. The report further demonstrated the worldwide distribution of Hb M-Saskatoon.

#	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: Jan 7, 2023

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