NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Heinz body anemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 2022
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:: RCV001813746.10

Allele description [Variation Report for NM_000518.4(HBB):c.19G>A (p.Glu7Lys)]

NM_000518.4(HBB):c.19G>A (p.Glu7Lys)

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.19G>A (p.Glu7Lys)

Other names:

E6K; HbC

HGVS:

NC_000011.10:g.5227003C>T
NG_000007.3:g.70613G>A
NG_042296.1:g.534C>T
NG_046672.1:g.4938C>T
NG_059281.1:g.5069G>A
NM_000518.5:c.19G>AMANE SELECT
NP_000509.1:p.Glu7Lys
NP_000509.1:p.Glu7Lys
LRG_1232t1:c.19G>A
LRG_1232:g.5069G>A
LRG_1232p1:p.Glu7Lys
NC_000011.9:g.5248233C>T
NM_000518.4:c.19G>A
P68871:p.Glu7Lys

Protein change:

E7K; Glu6Lys

Links:

Genetic Testing Registry (GTR): GTR000500319; HBVAR: 227; UniProtKB: P68871#VAR_002864; OMIM: 141900.0010; OMIM: 141900.0038; dbSNP: rs33930165

NCBI 1000 Genomes Browser:

rs33930165

Molecular consequence:

NM_000518.5:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Heinz body anemia
Synonyms:: Heinz body anemias; Heinz body hemolytic anemia
Identifiers:: MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002061274	DASA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 5, 2022)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 2030155, 27117572, 26372199, 23297836, 19061217, 30604644, 33091040, 15973412, 20236848, 28251416, 26661037, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002061274

DASA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 5, 2022)

germline

clinical testing

PubMed (12)
[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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A silver enhanced, gold labelled, immunosorbent assay for detecting antibodies to rubella virus.

Patel N, Rocks BF, Bailey MP.

J Clin Pathol. 1991 Apr;44(4):334-8.

PubMed [citation]

PMID:: 2030155
PMCID:: PMC496912

Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A).

Boucher MO, Chui DH, Woda BA, Newburger PE.

Hemoglobin. 2016 Jun;40(3):208-9. doi: 10.3109/03630269.2016.1165245.

PubMed [citation]

PMID:: 27117572

See all PubMed Citations (12)

Details of each submission

From DASA, SCV002061274.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (12)

Description

The c.19G>A;p.(Glu7Lys) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 15126; PMID: 2030155; 27117572; 26372199; 23297836; 19061217; 30604644; 33091040) - PS4. Well-established in vitro or in vivo functional studies support a damaging effect on the gene or gene product (PMID: 15973412) - PS3_supporting. The variant is present at low allele frequencies population databases (rs33930165– gnomAD 0.03745%; ABraOM 0.002989 frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Glu7Lys) was detected in trans with a pathogenic variant (PMID: 27117572; 26372199; 23297836; 19061217; 30604644; 33091040) - PM3_very strong The variant co-segregated with disease in multiple affected family members (PMID: 4746100; 13908956) - PP1_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.

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

Last Updated: May 19, 2024

ClinVar

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