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NM_001353921.2(ARHGEF9):c.1322-49T>G AND Epilepsy

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 26, 2017
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:
RCV000781964.1

Allele description [Variation Report for NM_001353921.2(ARHGEF9):c.1322-49T>G]

NM_001353921.2(ARHGEF9):c.1322-49T>G

Gene:
ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq11.1
Genomic location:
Preferred name:
NM_001353921.2(ARHGEF9):c.1322-49T>G
HGVS:
  • NC_000023.11:g.63644097A>C
  • NG_016975.1:g.146450T>G
  • NM_001173479.2:c.1142-49T>G
  • NM_001173480.2:c.995-49T>G
  • NM_001330495.2:c.1238-49T>G
  • NM_001353921.2:c.1322-49T>GMANE SELECT
  • NM_001353922.2:c.1190-49T>G
  • NM_001353923.1:c.1340-49T>G
  • NM_001353924.2:c.1121-49T>G
  • NM_001353926.2:c.1121-49T>G
  • NM_001353927.2:c.1106-49T>G
  • NM_001353928.2:c.1169-49T>G
  • NM_001369030.1:c.1301-49T>G
  • NM_001369031.1:c.1301-49T>G
  • NM_001369032.1:c.1301-49T>G
  • NM_001369033.1:c.1238-49T>G
  • NM_001369034.1:c.1238-49T>G
  • NM_001369035.1:c.1238-49T>G
  • NM_001369036.1:c.1238-49T>G
  • NM_001369037.1:c.1238-49T>G
  • NM_001369038.1:c.1238-49T>G
  • NM_001369039.1:c.1121-49T>G
  • NM_001369040.1:c.1121-49T>G
  • NM_001369041.1:c.1106-49T>G
  • NM_001369042.1:c.995-49T>G
  • NM_001369043.1:c.994-49T>G
  • NM_001369044.1:c.994-49T>G
  • NM_001369045.1:c.755-49T>G
  • NM_015185.3:c.1301-49T>G
  • NC_000023.10:g.62863977A>C
Links:
dbSNP: rs56401522
NCBI 1000 Genomes Browser:
rs56401522
Molecular consequence:
  • NM_001173479.2:c.1142-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001173480.2:c.995-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330495.2:c.1238-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353921.2:c.1322-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353922.2:c.1190-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353923.1:c.1340-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353924.2:c.1121-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353926.2:c.1121-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353927.2:c.1106-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353928.2:c.1169-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369030.1:c.1301-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369031.1:c.1301-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369032.1:c.1301-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369033.1:c.1238-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369034.1:c.1238-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369035.1:c.1238-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369036.1:c.1238-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369037.1:c.1238-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369038.1:c.1238-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369039.1:c.1121-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369040.1:c.1121-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369041.1:c.1106-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369042.1:c.995-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369043.1:c.994-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369044.1:c.994-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369045.1:c.755-49T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015185.3:c.1301-49T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Epilepsy
Synonyms:
Seizure Disorders; Seizure disorder
Identifiers:
MONDO: MONDO:0005027; MeSH: D004827; MedGen: C0014544

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000920418Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Benign
(Jul 26, 2017) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000920418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023