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NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) 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:
RCV001526363.1

Allele description [Variation Report for NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter)]

NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter)

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.175C>T (p.Gln59Ter)
HGVS:
  • NC_000003.12:g.39389600C>T
  • NG_016931.1:g.11277C>T
  • NM_001354798.2:c.175C>T
  • NM_017875.4:c.175C>TMANE SELECT
  • NP_001341727.1:p.Gln59Ter
  • NP_060345.2:p.Gln59Ter
  • LRG_1133t1:c.175C>T
  • LRG_1133:g.11277C>T
  • LRG_1133p1:p.Gln59Ter
  • NC_000003.11:g.39431091C>T
  • NM_017875.3:c.175C>T
Protein change:
Q59*
Links:
dbSNP: rs2125577893
NCBI 1000 Genomes Browser:
rs2125577893
Molecular consequence:
  • NM_001354798.2:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017875.4:c.175C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001736683Mark Fleming Laboratory, Boston Children's Hospital
criteria provided, single submitter

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

PubMed (2)
[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

[Clinical features and gene mutation spectrum in children with sideroblastic anemia].

An WB, An WB, Liu C, Wan Y, Guo Y, Wang SC, Zhang YC, Zhu XF.

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Oct;21(10):1016-1021. Chinese.

PubMed [citation]
PMID:
31642437
PMCID:
PMC7389731

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 Mark Fleming Laboratory, Boston Children's Hospital, SCV001736683.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025