NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) AND X-linked sideroblastic anemia with ataxia

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 7, 2009
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:: RCV000012331.33

Allele description [Variation Report for NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)]

NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)

Gene:

ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.3

Genomic location:

Preferred name:

NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)

HGVS:

NC_000023.11:g.75070433C>T
NG_007980.3:g.90851G>A
NM_001271696.3:c.1297G>AMANE SELECT
NM_001271697.3:c.1177G>A
NM_001271698.3:c.1219G>A
NM_001271699.3:c.1180G>A
NM_004299.6:c.1300G>A
NP_001258625.1:p.Glu433Lys
NP_001258626.1:p.Glu393Lys
NP_001258627.1:p.Glu407Lys
NP_001258628.1:p.Glu394Lys
NP_004290.2:p.Glu434Lys
LRG_1162t1:c.1300G>A
LRG_1162t2:c.1297G>A
LRG_1162:g.90851G>A
LRG_1162p1:p.Glu434Lys
LRG_1162p2:p.Glu433Lys
NC_000023.10:g.74290268C>T
NG_007980.2:g.91300G>A

Protein change:

E393K; GLU433LYS

Links:

OMIM: 300135.0002; dbSNP: rs80356714

NCBI 1000 Genomes Browser:

rs80356714

Molecular consequence:

NM_001271696.3:c.1297G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271697.3:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271698.3:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271699.3:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004299.6:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: X-linked sideroblastic anemia with ataxia (ASAT)
Synonyms:: Anemia sideroblastic and spinocerebellar ataxia; Sideroblastic anemia with spinocerebellar ataxia; Pagon Bird Detter syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010524; MedGen: C1845028; Orphanet: 2802; OMIM: 301310

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032565	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000041063	GeneReviews	no assertion criteria provided	pathologic (Apr 7, 2009)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032565

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2000)

germline

literature only

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

SCV000041063

GeneReviews

no assertion criteria provided

pathologic
(Apr 7, 2009)

not provided

curation

Help

Summary from all submissions

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

Citations

PubMed

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.

Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF.

Blood. 2000 Nov 1;96(9):3256-64.

PubMed [citation]

PMID:: 11050011

Details of each submission

From OMIM, SCV000032565.2

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

Description

Bekri et al. (2000) described a family in which affected males with sideroblastic anemia with ataxia (ASAT; 301310) had a missense mutation in exon 10 of the ABC7 gene: a G-to-A transition at nucleotide 1305 of the full-length cDNA, resulting in a charge inversion caused by the substitution of lysine for glutamate at residue 433 C-terminal to the putative sixth transmembrane domain of ABC7. In the older brother, congenital ataxia had been diagnosed at the age of 4. The ataxia was nonprogressive after computed tomography of the brain at age 18 showed striking, selective cerebellar hypoplasia. The mother's blood film showed dimorphism, consistent with an X-linked defect. The anemia was refractory to treatment with pyridoxine.

#	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

From GeneReviews, SCV000041063.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Pathogenic.

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

Last Updated: Apr 20, 2024

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