NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) AND Sideroblastic anemia 2

Germline classification:: Pathogenic (2 submissions)
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:: RCV000001181.4

Allele description [Variation Report for NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)]

NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)

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.790A>T (p.Lys264Ter)

HGVS:

NC_000003.12:g.39394574A>T
NG_016931.1:g.16251A>T
NM_001354798.2:c.626-1824A>T
NM_017875.4:c.790A>TMANE SELECT
NP_060345.2:p.Lys264Ter
LRG_1133t1:c.790A>T
LRG_1133:g.16251A>T
LRG_1133p1:p.Lys264Ter
NC_000003.11:g.39436065A>T
NM_017875.3:c.790A>T

Protein change:

K264*; LYS264TER

Links:

OMIM: 610819.0005; dbSNP: rs121918332

NCBI 1000 Genomes Browser:

rs121918332

Molecular consequence:

NM_001354798.2:c.626-1824A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_017875.4:c.790A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021331	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001736703	Mark Fleming Laboratory, Boston Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 1, 2021)	germline	research	PubMed (5) [See all records that cite these PMIDs] 31338833, 19412178, 28772256, 30735661, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021331

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2009)

germline

literature only

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

SCV001736703

Mark Fleming Laboratory, Boston Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 1, 2021)

germline

research

PubMed (5)
[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	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

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

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME.

Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3.

PubMed [citation]

PMID:: 19412178

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000021331.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 Hispanic sibs with autosomal recessive sideroblastic anemia-2 (SIDBA2; 205950), Guernsey et al. (2009) identified a homozygous 1167A-T transversion in the SLC25A38 gene, resulting in a lys264-to-ter (K264X) substitution.

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

From Mark Fleming Laboratory, Boston Children's Hospital, SCV001736703.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (5)

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

Last Updated: Apr 23, 2022

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