NM_000518.5(HBB):c.319C>G (p.Leu107Val) AND beta Thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 25, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001078325.2

Allele description [Variation Report for NM_000518.5(HBB):c.319C>G (p.Leu107Val)]

NM_000518.5(HBB):c.319C>G (p.Leu107Val)

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.319C>G (p.Leu107Val)

Other names:

CD 106 (CTG >GTG) Leu to Val

HGVS:

NC_000011.10:g.5225723G>C
NG_000007.3:g.71893C>G
NG_046672.1:g.3658G>C
NG_053049.1:g.2044G>C
NG_059281.1:g.6349C>G
NM_000518.5:c.319C>GMANE SELECT
NP_000509.1:p.Leu107Val
LRG_1232t1:c.319C>G
LRG_1232:g.6349C>G
LRG_1232p1:p.Leu107Val
NC_000011.9:g.5246953G>C
NM_000518.4:c.319C>G

Protein change:

L107V

Links:

dbSNP: rs63750596

NCBI 1000 Genomes Browser:

rs63750596

Molecular consequence:

NM_000518.5:c.319C>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
SCV001244494	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] 17654075, 18591626 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244494

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

Citations

PubMed

Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.

Amato A, Cappabianca MP, Ponzini D, Rinaldi S, Biagio PD, Foglietta E, Grisanti P, Mastropietro F.

Hemoglobin. 2007;31(3):375-8.

PubMed [citation]

PMID:: 17654075

Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val].

Grosso M, Palumbo I, Morelli E, Puzone S, Sessa R, Izzo P.

Haematologica. 2008 Jul;93(7):1096-8. doi: 10.3324/haematol.11722. No abstract available.

PubMed [citation]

PMID:: 18591626

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244494.1

#	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: Jan 6, 2024

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