NM_000184.2(HBG2):c.121A>G (p.Arg41Gly) AND HEMOGLOBIN F (VELETA)

Germline classification:: other (1 submission)
Last evaluated:: Aug 18, 2016
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:: RCV000016139.11

Allele description [Variation Report for NM_000184.2(HBG2):c.121A>G (p.Arg41Gly)]

NM_000184.2(HBG2):c.121A>G (p.Arg41Gly)

Genes:

LOC106099065:HBG2 recombination region [Gene]
HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000184.2(HBG2):c.121A>G (p.Arg41Gly)

Other names:

R40G

HGVS:

NC_000011.10:g.5254486T>C
NG_000007.3:g.43130A>G
NG_042299.1:g.600T>C
NM_000184.3:c.121A>GMANE SELECT
NP_000175.1:p.Arg41Gly
NP_000175.1:p.Arg41Gly
HBG2:c.121A>G
NC_000011.9:g.5275716T>C
NM_000184.2:c.121A>G
P69892:p.Arg41Gly

Protein change:

R41G; ARG40GLY

Links:

HBVAR: 595; UniProtKB: P69892#VAR_003144; OMIM: 142250.0044; dbSNP: rs34532478

NCBI 1000 Genomes Browser:

rs34532478

Molecular consequence:

NM_000184.3:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN F (VELETA)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036407	OMIM	no assertion criteria provided	other (Aug 18, 2016)	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

SCV000036407

OMIM

no assertion criteria provided

other
(Aug 18, 2016)

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 F-Albaicin or G gamma 8(A5)Lys----Glu or Gln.

de Pablos JM, Wilson JB, Kutlar A, Chen SS, Huisman TH.

Hemoglobin. 1986;10(6):655-9. No abstract available.

PubMed [citation]

PMID:: 2435680

Details of each submission

From OMIM, SCV000036407.2

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

Description

In a newborn Spanish male, de Pablos Gallego et al. (1995) demonstrated a new HbF variant and showed that it contained an arg40-to-gly substitution in the G-gamma chain. The amino acid substitution resulted from an AGG-to-GGG transition.

#	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: Nov 3, 2024

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