NM_000517.6(HBA2):c.379G>T (p.Asp127Tyr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 7, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000507294.2

Allele description [Variation Report for NM_000517.6(HBA2):c.379G>T (p.Asp127Tyr)]

NM_000517.6(HBA2):c.379G>T (p.Asp127Tyr)

Genes:

LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000517.6(HBA2):c.379G>T (p.Asp127Tyr)

HGVS:

NC_000016.10:g.173550G>T
NG_000006.1:g.34413G>T
NG_046165.1:g.3289G>T
NG_059186.1:g.1900G>T
NG_059271.1:g.5704G>T
NM_000517.6:c.379G>TMANE SELECT
NP_000508.1:p.Asp127Tyr
LRG_1240t1:c.379G>T
LRG_1225:g.1900G>T
LRG_1240:g.5704G>T
LRG_1240p1:p.Asp127Tyr
NC_000016.9:g.223549G>T
NM_000517.4:c.379G>T

Protein change:

D127Y

Links:

dbSNP: rs33933481

NCBI 1000 Genomes Browser:

rs33933481

Molecular consequence:

NM_000517.6:c.379G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000601213	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Apr 7, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 8798486, 1511986, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000601213

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Apr 7, 2017)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hb Montefiore (126(H9)Asp-->Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption.

Wajcman H, Kister J, Galactéros F, Spielvogel A, Lin MJ, Vidugiris GJ, Hirsch RE, Friedman JM, Nagel RL.

J Biol Chem. 1996 Sep 20;271(38):22990-8.

PubMed [citation]

PMID:: 8798486

Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.

Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F.

Hum Genet. 1992 Aug;89(6):676-80.

PubMed [citation]

PMID:: 1511986

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601213.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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