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:: RCV002279884.3

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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002567950	Daryl Scott Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 22, 2022)	maternal	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 36135330

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002567950

Daryl Scott Lab, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 22, 2022)

maternal

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	1	not provided	not provided	not provided	not provided	clinical 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

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, et al.

Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22.

PubMed [citation]

PMID:: 36135330
PMCID:: PMC9669235

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Sep 29, 2024

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