NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) AND Brown-Vialetto-van Laere syndrome 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 1, 2014
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:: RCV000082865.6

Allele description [Variation Report for NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys)]

NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys)

Gene:

SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys)

HGVS:

NC_000008.11:g.144360406A>G
NG_032872.2:g.6850A>G
NM_001253815.2:c.914A>G
NM_001253816.2:c.914A>G
NM_001363118.2:c.914A>GMANE SELECT
NM_001363120.2:c.914A>G
NM_001363121.2:c.914A>G
NM_001363122.2:c.422A>G
NM_024531.5:c.914A>G
NP_001240744.1:p.Tyr305Cys
NP_001240745.1:p.Tyr305Cys
NP_001350047.1:p.Tyr305Cys
NP_001350049.1:p.Tyr305Cys
NP_001350050.1:p.Tyr305Cys
NP_001350051.1:p.Tyr141Cys
NP_078807.1:p.Tyr305Cys
NC_000008.10:g.145584066A>G
NG_032872.1:g.6850A>G
NM_024531.4:c.914A>G
NR_045600.2:n.1374A>G
Q9HAB3:p.Tyr305Cys

Protein change:

Y141C; Tyr305Cys

Links:

UniProtKB: Q9HAB3#VAR_077438; OMIM: 607882.0007; dbSNP: rs398123068

NCBI 1000 Genomes Browser:

rs398123068

Molecular consequence:

NM_001253815.2:c.914A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001253816.2:c.914A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363118.2:c.914A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363120.2:c.914A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363121.2:c.914A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363122.2:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024531.5:c.914A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_045600.2:n.1374A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Brown-Vialetto-van Laere syndrome 2
Synonyms:: Riboflavin transporter deficiency type 2
Identifiers:: MONDO: MONDO:0013867; MedGen: C3553538; Orphanet: 97229; OMIM: 614707

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114916	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000246245	GeneReviews	no classification provided	not provided	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

SCV000114916

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2014)

germline

literature only

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

SCV000246245

GeneReviews

no classification provided

not provided

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, et al.

Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19.

PubMed [citation]

PMID:: 24253200
PMCID:: PMC3891447

Details of each submission

From OMIM, SCV000114916.3

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

Description

In an Irish infant with Brown-Vialetto-Van Laere syndrome-2 (BVVLS2; 614707), Foley et al. (2014) identified compound heterozygous mutations in the SLC52A2 gene: a c.914A-G transition, resulting in a tyr305-to-cys (Y305C) substitution, and G306R (607882.0001). In vitro cellular expression studies indicated that the Y305C mutation completely abolished riboflavin uptake and caused a decrease in SLC52A2 protein expression.

#	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 GeneReviews, SCV000246245.2

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

#	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: Jul 29, 2023

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