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NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) AND Sideroblastic anemia 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2021
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:
RCV001526382.1

Allele description [Variation Report for NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)]

NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)

Gene:
SLC25A38:solute carrier family 25 member 38 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.1
Genomic location:
Preferred name:
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)
HGVS:
  • NC_000003.12:g.39391983T>C
  • NG_016931.1:g.13660T>C
  • NM_001354798.2:c.587T>C
  • NM_017875.4:c.587T>CMANE SELECT
  • NP_001341727.1:p.Leu196Pro
  • NP_060345.2:p.Leu196Pro
  • LRG_1133t1:c.587T>C
  • LRG_1133:g.13660T>C
  • LRG_1133p1:p.Leu196Pro
  • NC_000003.11:g.39433474T>C
  • NM_017875.3:c.587T>C
Protein change:
L196P
Links:
dbSNP: rs2125580600
NCBI 1000 Genomes Browser:
rs2125580600
Molecular consequence:
  • NM_001354798.2:c.587T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017875.4:c.587T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sideroblastic anemia 2
Synonyms:
Anemia, sideroblastic, 2, pyridoxine-refractory
Identifiers:
MONDO: MONDO:0008785; MedGen: C4225425; Orphanet: 260305; OMIM: 205950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001736706Mark Fleming Laboratory, Boston Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 1, 2021) 		germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

Fouquet C, Le Rouzic MA, Leblanc T, Fouyssac F, Leverger G, Hessissen L, Marlin S, Bourrat E, Fahd M, Raffoux E, Vannier JP, Jäkel N, Knoefler R, Triolo V, Pasquet M, Bayart S, Thuret I, Lutz P, Vermylen C, Touati M, Rose C, Matthes T, et al.

Br J Haematol. 2019 Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23.

PubMed [citation]
PMID:
31338833

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Le Rouzic MA, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, Jäkel N, Guichard JF, Maloum K, Toutain F, Lutz P, Perel Y, Manceau H, Kannengiesser C, Vannier JP.

Blood Cells Mol Dis. 2017 Jul;66:11-18. doi: 10.1016/j.bcmd.2017.07.003. Epub 2017 Jul 26.

PubMed [citation]
PMID:
28772256
See all PubMed Citations (3)

Details of each submission

From Mark Fleming Laboratory, Boston Children's Hospital, SCV001736706.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025