NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Oct 7, 2020
Review status:: criteria provided, conflicting classifications

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:: RCV001283984.17

Allele description [Variation Report for NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)]

NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)

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_000558.5(HBA1):c.91G>A (p.Glu31Lys)

Other names:

E30K

HGVS:

NC_000016.10:g.176807G>A
NG_000006.1:g.37670G>A
NG_046166.1:g.2290G>A
NG_059186.1:g.5157G>A
NM_000558.5:c.91G>AMANE SELECT
NP_000549.1:p.Glu31Lys
LRG_1225t1:c.91G>A
LRG_1225:g.5157G>A
LRG_1225p1:p.Glu31Lys
NC_000016.9:g.226806G>A
NM_000558.3:c.91G>A
P69905:p.Glu31Lys

Protein change:

E31K; GLU30LYS

Links:

UniProtKB: P69905#VAR_002751; OMIM: 141800.0111; dbSNP: rs33993166

NCBI 1000 Genomes Browser:

rs33993166

Molecular consequence:

NM_000558.5:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001469517	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Oct 7, 2020)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 9215129, 2117321, 2869010, 4429803, 12195002, 10868862, 32420790, 6866546, 26467025
SCV001474387	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (Jul 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001469517

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Oct 7, 2020)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV001474387

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Likely benign
(Jul 10, 2020)

germline

clinical testing

Citation Link

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

Citations

PubMed

Haemoglobin O Padova and falsely low haemoglobin A1c in a patient with type I diabetes.

Schnedl WJ, Reisinger EC, Katzensteiner S, Lipp RW, Schreiber F, Hopmeier P, Krejs GJ.

J Clin Pathol. 1997 May;50(5):434-5.

PubMed [citation]

PMID:: 9215129
PMCID:: PMC499948

Hb O Padova in a Spanish Family.

Martín G, Villegas A, Calero F, del Palacio S, López JC, López M, Espinós D.

Acta Haematol. 1990;84(1):1-4.

PubMed [citation]

PMID:: 2117321

See all PubMed Citations (9)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469517.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474387.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Nov 24, 2024

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