NM_000518.5(HBB):c.380T>G (p.Val127Gly) AND beta Thalassemia

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 18, 2018
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:: RCV000674175.13

Allele description [Variation Report for NM_000518.5(HBB):c.380T>G (p.Val127Gly)]

NM_000518.5(HBB):c.380T>G (p.Val127Gly)

Genes:

LOC110006319:beta-globin gene 3' regulatory 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_000518.5(HBB):c.380T>G (p.Val127Gly)

Other names:

V126G; Hb Dhonburi; Hb Neapolis; CD 126 GTG>GGG

HGVS:

NC_000011.10:g.5225662A>C
NG_000007.3:g.71954T>G
NG_046672.1:g.3597A>C
NG_053049.1:g.1983A>C
NG_059281.1:g.6410T>G
NM_000518.5:c.380T>GMANE SELECT
NP_000509.1:p.Val127Gly
LRG_1232t1:c.380T>G
HBB:c.380T>G
LRG_1232:g.6410T>G
LRG_1232p1:p.Val127Gly
NC_000011.9:g.5246892A>C
NM_000518.4:c.380T>G
P68871:p.Val127Gly

Protein change:

V127G; VAL126GLY

Links:

HBVAR: 521; UniProtKB: P68871#VAR_003056; OMIM: 141900.0393; dbSNP: rs33925391

NCBI 1000 Genomes Browser:

rs33925391

Molecular consequence:

NM_000518.5:c.380T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: beta Thalassemia (BTHAL)
Synonyms:: Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:: MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799463	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Apr 18, 2018)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 1954392, 1463768, 17994378, 23525874, 17606453, 9028819, 7530406 Citation Link,
SCV001244568	The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	no assertion criteria provided	Pathogenic (Nov 25, 2019)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 2399911, 1463768 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799463

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Pathogenic
(Apr 18, 2018)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV001244568

The ITHANET community portal, The Cyprus Institute of Neurology and Genetics

no assertion criteria provided

Pathogenic
(Nov 25, 2019)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.

Pagano L, Lacerra G, Camardella L, De Angioletti M, Fioretti G, Maglione G, de Bonis C, Guarino E, Viola A, Cutolo R, et al.

Blood. 1991 Dec 1;78(11):3070-5.

PubMed [citation]

PMID:: 1954392

Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations.

Verma IC, Kleanthous M, Saxena R, Fucharoen S, Winichagoon P, Raizuddin S, Khan SN, Akbari MT, Izadyar M, Kotea N, Old JM, Ioannou PA, Khan B.

Hemoglobin. 2007;31(4):439-52.

PubMed [citation]

PMID:: 17994378

See all PubMed Citations (8)

Details of each submission

From Counsyl, SCV000799463.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	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 The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244568.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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: Jun 9, 2024

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