NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) AND Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1999
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000006326.3

Allele description [Variation Report for NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)]

NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)

Gene:

SLC19A2:solute carrier family 19 member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q24.2

Genomic location:

Preferred name:

NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)

HGVS:

NC_000001.11:g.169477532_169477533del
NG_008255.1:g.13438_13439del
NM_001319667.1:c.205-7347_205-7346del
NM_006996.3:c.429_430delMANE SELECT
NP_008927.1:p.Ile145fs
NC_000001.10:g.169446770_169446771del
NM_006996.2:c.429_430delTT

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

I145fs

Links:

OMIM: 603941.0008; dbSNP: rs1571537879

NCBI 1000 Genomes Browser:

rs1571537879

Molecular consequence:

NM_006996.3:c.429_430del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319667.1:c.205-7347_205-7346del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (TRMA)
Synonyms:: Thiamine-responsive anemia syndrome; Rogers syndrome; Thiamine-responsive myelodysplasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009575; MedGen: C0342287; Orphanet: 49827; OMIM: 249270

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026508	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026508

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1999)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD.

Nat Genet. 1999 Jul;22(3):309-12.

PubMed [citation]

PMID:: 10391223

Details of each submission

From OMIM, SCV000026508.2

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

Description

In affected members of an Iranian family with thiamine-responsive megaloblastic anemia syndrome (TRMA; 249270), Diaz et al. (1999) identified a 2-bp deletion involving 429T and 430T of the SLC19A2 gene. Three affected members of the family were studied and found to be homozygous. Two sets of parents and 1 unaffected sib were heterozygous for the mutation.

#	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

Last Updated: Apr 23, 2022

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