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NC_000023.11:g.55031184G>C AND X-linked sideroblastic anemia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2003
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:
RCV000011226.11

Allele description [Variation Report for NC_000023.11:g.55031184G>C]

NC_000023.11:g.55031184G>C

Genes:
ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
PAGE2B:PAGE family member 2B [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.21
Genomic location:
Preferred name:
NC_000023.11:g.55031184G>C
HGVS:
  • NC_000023.11:g.55031184G>C
  • NG_008983.1:g.4881C>G
  • LRG_1163:g.4881C>G
  • NC_000023.10:g.55057617G>C
  • NM_000032.4:c.-258C>G
Note:
NCBI staff reviewed the sequence information reported in PubMed 12663458 Fig. 5B to determine the location of this allele on the current reference sequence.
Nucleotide change:
-206C-G, PROMOTER
Links:
OMIM: 301300.0013; dbSNP: rs140772352
NCBI 1000 Genomes Browser:
rs140772352

Condition(s)

Name:
X-linked sideroblastic anemia 1
Synonyms:
Erythroid 5-aminolevulinate synthase deficiency; X chromosome-linked sideroblastic anemia; ANEMIA, SIDEROBLASTIC, 1, PYRIDOXINE REFRACTORY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0020721; MedGen: C4551511; Orphanet: 75563; OMIM: 300751

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031453OMIM
no assertion criteria provided
Pathogenic
(Jul 15, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Bekri S, May A, Cotter PD, Al-Sabah AI, Guo X, Masters GS, Bishop DF.

Blood. 2003 Jul 15;102(2):698-704. Epub 2003 Mar 27.

PubMed [citation]
PMID:
12663458

Details of each submission

From OMIM, SCV000031453.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 32-year-old woman with sideroblastic anemia-1 (SIDBA1; 300751) of mild phenotype and moderately late onset, Bekri et al. (2003) found a promoter mutation in the ALAS2 gene, a C-to-G transversion at nucleotide -206 from the transcription start site, as defined by primer extension. The same mutation was found in her affected son but not in any of her unaffected relatives. Pyridoxine therapy had no effect in the proband, but in her affected son engendered a modest increase in hemoglobin concentration and a 4-fold reduction in ferritin iron.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024