NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) AND HEMOGLOBIN MCKEES ROCKS

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:: RCV000016489.5

Allele description [Variation Report for NM_000518.5(HBB):c.438T>A (p.Tyr146Ter)]

NM_000518.5(HBB):c.438T>A (p.Tyr146Ter)

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.438T>A (p.Tyr146Ter)

Other names:

Y145*

HGVS:

NC_000011.10:g.5225604A>T
NG_000007.3:g.72012T>A
NG_046672.1:g.3539A>T
NG_053049.1:g.1925A>T
NG_059281.1:g.6468T>A
NM_000518.5:c.438T>AMANE SELECT
NP_000509.1:p.Tyr146Ter
LRG_1232t1:c.438T>A
LRG_1232:g.6468T>A
LRG_1232p1:p.Tyr146Ter
NC_000011.9:g.5246834A>T

Protein change:

Y146*; TYR145TER

Links:

OMIM: 141900.0175; dbSNP: rs35291591

NCBI 1000 Genomes Browser:

rs35291591

Molecular consequence:

NM_000518.5:c.438T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: HEMOGLOBIN MCKEES ROCKS
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036757	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1249207, 3348204

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036757

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

Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.

Winslow RM, Swenberg ML, Gross E, Chervenick PA, Buchman RR, Anderson WF.

J Clin Invest. 1976 Mar;57(3):772-81.

PubMed [citation]

PMID:: 1249207
PMCID:: PMC436713

Hemoglobin Pasadena: identification of the gene mutant by DNA analysis using synthetic DNA probes.

Rahbar S, Rosen R, Nozari G, Lee TD, Asmerom Y, Wallace RB.

Am J Hematol. 1988 Mar;27(3):204-8.

PubMed [citation]

PMID:: 3348204

Details of each submission

From OMIM, SCV000036757.5

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

Description

The beta chain is only 144 amino acids long. The codon for beta 145 tyr has been changed to a terminator. Polycythemia is the clinical manifestation. See Winslow et al. (1975) and Rahbar et al. (1983).

#	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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