NM_000558.3(HBA1):c.344C>G (p.Pro115Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 2020
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:: RCV001283982.1

Allele description [Variation Report for NM_000558.3(HBA1):c.344C>G (p.Pro115Arg)]

NM_000558.3(HBA1):c.344C>G (p.Pro115Arg)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.3(HBA1):c.344C>G (p.Pro115Arg)

Other names:

P114R

HGVS:

NC_000016.10:g.177326C>G
NG_000006.1:g.38189C>G
NG_046166.1:g.2809C>G
NG_059186.1:g.5676C>G
NM_000558.5:c.344C>GMANE SELECT
NP_000549.1:p.Pro115Arg
LRG_1225t1:c.344C>G
LRG_1225:g.5676C>G
LRG_1225p1:p.Pro115Arg
NC_000016.9:g.227325C>G
NM_000558.3:c.344C>G
P69905:p.Pro115Arg

Protein change:

P115R; PRO114ARG

Links:

HBVAR: 176; UniProtKB: P69905#VAR_002826; OMIM: 141800.0019; dbSNP: rs33910377

NCBI 1000 Genomes Browser:

rs33910377

Molecular consequence:

NM_000558.5:c.344C>G - 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
SCV001469515	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Apr 23, 2020)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 5650416, 7319830, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001469515

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Apr 23, 2020)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas.

Jones RT, Brimhall B, Lisker R.

Biochim Biophys Acta. 1968 Apr 9;154(3):488-95. No abstract available.

PubMed [citation]

PMID:: 5650416

Hb Chiapas alpha 2 114 Pro replaced by Arg beta 2: identification by high pressure liquid chromatography.

Ibarra B, Franco-Gamboa E, Ramírez ML, Cantú JM, Wilson JB, Lam H, Huisman TH.

Hemoglobin. 1981;5(6):605-8. No abstract available.

PubMed [citation]

PMID:: 7319830

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469515.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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