NM_000518.5(HBB):c.100G>A (p.Val34Met) AND HEMOGLOBIN RIO CLARO

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000016833.3

Allele description [Variation Report for NM_000518.5(HBB):c.100G>A (p.Val34Met)]

NM_000518.5(HBB):c.100G>A (p.Val34Met)

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_000518.5(HBB):c.100G>A (p.Val34Met)

HGVS:

NC_000011.10:g.5226792C>T
NG_000007.3:g.70824G>A
NG_042296.1:g.323C>T
NG_046672.1:g.4727C>T
NG_059281.1:g.5280G>A
NM_000518.5:c.100G>AMANE SELECT
NP_000509.1:p.Val34Met
LRG_1232t1:c.100G>A
LRG_1232:g.5280G>A
LRG_1232p1:p.Val34Met
NC_000011.9:g.5248022C>T
NM_000518.4:c.100G>A

Protein change:

V34M; VAL34MET

Links:

OMIM: 141900.0478; dbSNP: rs1141370

NCBI 1000 Genomes Browser:

rs1141370

Molecular consequence:

NM_000518.5:c.100G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN RIO CLARO
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037103	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037103

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hb Rio Claro [beta34(B16)Val-->Met]: a novel electrophoretically silent variant found in association with Hb Hasharon [alpha47(CE5)Asp-->His] and alpha-thalassemia-2(-alpha3.7).

Grignoli CR, Wenning MR, Sonati MF, Kimura EM, Arruda VR, Saad ST, Costa FF.

Hemoglobin. 1999 May;23(2):177-82. No abstract available.

PubMed [citation]

PMID:: 10335985

Details of each submission

From OMIM, SCV000037103.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

By globin chain electrophoresis, Grignoli et al. (1999) detected a novel silent hemoglobin variant in a 4-year-old Caucasian Brazilian boy of Italian descent, and in his mother. Sequencing of the HBB gene revealed a G-to-A transition at the first position of codon 34, resulting in a val-to-met substitution. In the boy, this variant was found to be associated with Hb Hasharon (141850.0012) and alpha-thalassemia-2 (rightward deletion).

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

Last Updated: Apr 23, 2022

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