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NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) AND X-linked sideroblastic anemia 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002279884.2

Allele description [Variation Report for NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)]

NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)

Gene:
ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.21
Genomic location:
Preferred name:
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)
HGVS:
  • NC_000023.11:g.55014940G>A
  • NG_008983.1:g.21125C>T
  • NG_051370.1:g.25G>A
  • NM_000032.5:c.1244C>TMANE SELECT
  • NM_001037967.4:c.1133C>T
  • NM_001037968.4:c.1205C>T
  • NP_000023.2:p.Ala415Val
  • NP_001033056.1:p.Ala378Val
  • NP_001033057.1:p.Ala402Val
  • LRG_1163t1:c.1244C>T
  • LRG_1163:g.21125C>T
  • LRG_1163p1:p.Ala415Val
  • NC_000023.10:g.55041373G>A
Protein change:
A378V
Links:
dbSNP: rs143328343
NCBI 1000 Genomes Browser:
rs143328343
Molecular consequence:
  • NM_000032.5:c.1244C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001037967.4:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001037968.4:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002567950Daryl Scott Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 22, 2022) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV002567950.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024