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NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs) AND non-lesional focal epilepsy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 16, 2018
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:
RCV001849583.1

Allele description [Variation Report for NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs)]

NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs)

Gene:
SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs)
HGVS:
  • NC_000023.11:g.48905160_48905170dup
  • NG_034300.1:g.11797_11807dup
  • NM_001032289.3:c.427-270_427-260dup
  • NM_001042498.3:c.747_757dup
  • NM_001282647.2:c.427-270_427-260dup
  • NM_001282648.2:c.355-270_355-260dup
  • NM_001282649.2:c.564_574dup
  • NM_001282650.2:c.786_796dup
  • NM_001282651.2:c.831_841dup
  • NM_005660.3:c.747_757dupMANE SELECT
  • NP_001035963.1:p.Ala253fs
  • NP_001269578.1:p.Ala192fs
  • NP_001269579.1:p.Ala266fs
  • NP_001269580.1:p.Ala281fs
  • NP_005651.1:p.Ala253fs
  • NC_000023.10:g.48762437_48762447dup
  • NM_005660.1:c.747_757dup
Protein change:
A192fs
Links:
dbSNP: rs2147486766
NCBI 1000 Genomes Browser:
rs2147486766
Molecular consequence:
  • NM_001042498.3:c.747_757dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282649.2:c.564_574dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282650.2:c.786_796dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282651.2:c.831_841dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005660.3:c.747_757dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001032289.3:c.427-270_427-260dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282647.2:c.427-270_427-260dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282648.2:c.355-270_355-260dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
non-lesional focal epilepsy
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106416Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(May 16, 2018) 		somaticliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, et al.

Ann Neurol. 2018 Jun;83(6):1133-1146. doi: 10.1002/ana.25243. Epub 2018 May 16.

PubMed [citation]
PMID:
29679388
PMCID:
PMC6105543

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023