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NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys) AND Brown-Vialetto-van Laere syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001774819.2

Allele description [Variation Report for NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys)]

NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys)

Gene:
SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys)
HGVS:
  • NC_000020.11:g.763585T>C
  • NG_027687.2:g.17401A>G
  • NM_001370085.1:c.986A>G
  • NM_001370086.1:c.986A>G
  • NM_033409.4:c.986A>GMANE SELECT
  • NP_001357014.1:p.Tyr329Cys
  • NP_001357015.1:p.Tyr329Cys
  • NP_212134.3:p.Tyr329Cys
  • LRG_1394t1:c.986A>G
  • LRG_1394:g.17401A>G
  • LRG_1394p1:p.Tyr329Cys
  • NC_000020.10:g.744229T>C
  • NM_033409.3:c.986A>G
Protein change:
Y329C
Links:
dbSNP: rs2122516296
NCBI 1000 Genomes Browser:
rs2122516296
Molecular consequence:
  • NM_001370085.1:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370086.1:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033409.4:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brown-Vialetto-van Laere syndrome 1
Synonyms:
BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; PONTOBULBAR PALSY WITH DEAFNESS; Pontobulbar palsy and neurosensory deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024537; MedGen: C0796274; Orphanet: 97229; OMIM: 211530

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002004099GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.

Khani M, Shamshiri H, Taheri H, Hardy J, Bras JT, Carmona S, Moazzeni H, Alavi A, Heshmati A, Taghizadeh P, Nilipour Y, Ghazanfari T, Shahabi M, Okhovat AA, Rohani M, Valle G, Boostani R, Abdi S, Eshghi S, Nafissi S, Elahi E.

Neurobiol Aging. 2021 Mar;99:102.e1-102.e10. doi: 10.1016/j.neurobiolaging.2020.09.021. Epub 2020 Oct 5.

PubMed [citation]
PMID:
33189404

Details of each submission

From GeneReviews, SCV002004099.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Preliminary data suggest that some persons heterozygous for this variant may manifest RTD in the absence of circumstances that cause riboflavin depletion, but this hypothesis requires further investigation

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023