NM_000518.4(HBB):c.385G>C (p.Ala129Pro) AND HEMOGLOBIN MONT SAINT-AIGNAN

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:: RCV000016856.11

Allele description [Variation Report for NM_000518.4(HBB):c.385G>C (p.Ala129Pro)]

NM_000518.4(HBB):c.385G>C (p.Ala129Pro)

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_000518.4(HBB):c.385G>C (p.Ala129Pro)

Other names:

A128P

HGVS:

NC_000011.10:g.5225657C>G
NG_000007.3:g.71959G>C
NG_046672.1:g.3592C>G
NG_053049.1:g.1978C>G
NG_059281.1:g.6415G>C
NM_000518.5:c.385G>CMANE SELECT
NP_000509.1:p.Ala129Pro
LRG_1232t1:c.385G>C
LRG_1232:g.6415G>C
LRG_1232p1:p.Ala129Pro
NC_000011.9:g.5246887C>G
NM_000518.4:c.385G>C

Protein change:

A129P; ALA128PRO

Links:

HBVAR: 526; OMIM: 141900.0500; dbSNP: rs34139813

NCBI 1000 Genomes Browser:

rs34139813

Molecular consequence:

NM_000518.5:c.385G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN MONT SAINT-AIGNAN
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037126	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

SCV000037126

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 Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.

Wajcman H, Lahary A, Promé D, Kister J, Riou J, Godart C, Préhu C, Traeger-Synodinos J, Papassotiriou I, Galactéros F.

Hemoglobin. 2001 Feb;25(1):57-65.

PubMed [citation]

PMID:: 11300350

Details of each submission

From OMIM, SCV000037126.4

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

Description

In a 33-year-old French Caucasian woman displaying a well-tolerated chronic anemia, Wajcman et al. (2001) found Hb Mont Saint-Aignan, a mildly unstable variant associated with hemolytic anemia, marked microcytosis, and increased alpha/beta biosynthetic ratio. The molecular defect was an ala128-to-pro missense mutation of the HBB gene.

#	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: Oct 20, 2024

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