NM_000518.4(HBB):c.109C>G (p.Pro37Ala) AND HEMOGLOBIN BRIE COMTE ROBERT

This record was updated by the submitter. Please see the current version.

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:: RCV000016842.2

Allele description

NM_000518.4(HBB):c.109C>G (p.Pro37Ala)

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.109C>G (p.Pro37Ala)

Other names:

P36A

HGVS:

NC_000011.10:g.5226783G>C
NG_000007.3:g.70833C>G
NG_042296.1:g.314G>C
NG_046672.1:g.4718G>C
NG_059281.1:g.5289C>G
NM_000518.5:c.109C>GMANE SELECT
NP_000509.1:p.Pro37Ala
LRG_1232t1:c.109C>G
LRG_1232:g.5289C>G
LRG_1232p1:p.Pro37Ala
NC_000011.9:g.5248013G>C

Protein change:

P37A; PRO36ALA

Links:

HBVAR: 795; OMIM: 141900.0487; dbSNP: rs33948615

NCBI 1000 Genomes Browser:

rs33948615

Molecular consequence:

NM_000518.5:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN BRIE COMTE ROBERT
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037112	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

SCV000037112

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 Brie Comte Robert [beta36(C2)Pro-->Ala]: a new hemoglobin variant with high oxygen affinity and marked hydrophobic properties.

Wajcman H, Riou J, Promé D, Kister J, Galactéros F.

Hemoglobin. 1999 Aug;23(3):281-6. No abstract available.

PubMed [citation]

PMID:: 10490142

Details of each submission

From OMIM, SCV000037112.4

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

Description

Wajcman et al. (1999) described a beta-globin variant in a 36-year-old French Caucasian male who presented with polycythemia. The variant was named Hb Brie Comte Robert for the place where the carrier resided. It was shown to have high oxygen affinity.

#	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: Mar 7, 2021

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