NM_000518.4(HBB):c.68A>G (p.Glu23Gly) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Oct 3, 2023
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:: RCV000756231.6

Allele description [Variation Report for NM_000518.4(HBB):c.68A>G (p.Glu23Gly)]

NM_000518.4(HBB):c.68A>G (p.Glu23Gly)

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_000518.4(HBB):c.68A>G (p.Glu23Gly)

Other names:

E22G

HGVS:

NC_000011.10:g.5226954T>C
NG_000007.3:g.70662A>G
NG_042296.1:g.485T>C
NG_046672.1:g.4889T>C
NG_059281.1:g.5118A>G
NM_000518.5:c.68A>GMANE SELECT
NP_000509.1:p.Glu23Gly
LRG_1232t1:c.68A>G
LRG_1232:g.5118A>G
LRG_1232p1:p.Glu23Gly
NC_000011.9:g.5248184T>C
NM_000518.4:c.68A>G
P68871:p.Glu23Gly

Protein change:

E23G; GLU22GLY

Links:

HBVAR: 265; UniProtKB: P68871#VAR_002895; OMIM: 141900.0088; dbSNP: rs33936254

NCBI 1000 Genomes Browser:

rs33936254

Molecular consequence:

NM_000518.5:c.68A>G - 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
SCV000883977	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Oct 3, 2023)	germline	clinical testing	Citation Link,
SCV001134237	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Dec 7, 2022)	unknown	clinical testing	PubMed (8) [See all records that cite these PMIDs] 26950205, 29626415, 3623978, 5791015, 25849334, 24985555, 23806067, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000883977

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely benign
(Oct 3, 2023)

germline

clinical testing

Citation Link,

SCV001134237

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Dec 7, 2022)

unknown

clinical testing

PubMed (8)
[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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular Epidemiological Survey of Glucose-6-Phosphate Dehydrogenase Deficiency and Thalassemia in Uygur and Kazak Ethnic Groups in Xinjiang, Northwest China.

Han L, Su H, Wu H, Jiang W, Chen S.

Hemoglobin. 2016 Jun;40(3):179-86. doi: 10.3109/03630269.2016.1146618. Epub 2016 Mar 7.

PubMed [citation]

PMID:: 26950205

Effects of common hemoglobin variants on HbA1c measurements in China: results for α- and β-globin variants measured by six methods.

Xu A, Chen W, Xia Y, Zhou Y, Ji L.

Clin Chem Lab Med. 2018 Jul 26;56(8):1353-1361. doi: 10.1515/cclm-2017-1211.

PubMed [citation]

PMID:: 29626415

See all PubMed Citations (8)

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883977.3

#	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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134237.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant is associated with normal clinical presentation when in heterozygosity (PMIDs: 3623978 (1987) and 23806067 (2013)). It has also been identified as a common variant in China, seen in a subject with reduced mean corpuscular volume levels from a routine blood analysis, and among subjects with hemoglobin disorders (PMIDs: 29626415 (2018), 26950205 (2016), and 25849334 (2015)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

#	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: Nov 24, 2024

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