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NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) AND Epileptic encephalopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000416988.3

Allele description [Variation Report for NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)]

NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)

Gene:
SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
HGVS:
  • NC_000009.12:g.128632281GCATGC[3]
  • NG_027748.1:g.84724GCATGC[3]
  • NG_034056.1:g.29559GCATGC[3]
  • NM_001130438.3:c.6917GCATGC[3]MANE SELECT
  • NM_001195532.2:c.6842GCATGC[3]
  • NM_001363759.2:c.6980GCATGC[3]
  • NM_001363765.2:c.6857GCATGC[3]
  • NM_001375310.1:c.7004GCATGC[3]
  • NM_001375311.2:c.6917GCATGC[3]
  • NM_001375312.2:c.6953GCATGC[3]
  • NM_001375313.1:c.6899GCATGC[3]
  • NM_001375314.2:c.6857GCATGC[3]
  • NM_001375318.1:c.7016GCATGC[3]
  • NM_003127.4:c.6902GCATGC[3]
  • NP_001123910.1:p.Arg2308_Met2309dup
  • NP_001182461.1:p.Arg2283_Met2284dup
  • NP_001350688.1:p.Arg2329_Met2330dup
  • NP_001350694.1:p.Arg2288_Met2289dup
  • NP_001362239.1:p.Arg2337_Met2338dup
  • NP_001362240.1:p.Arg2308_Met2309dup
  • NP_001362241.2:p.Arg2320_Met2321dup
  • NP_001362242.1:p.Arg2302_Met2303dup
  • NP_001362243.1:p.Arg2288_Met2289dup
  • NP_001362247.1:p.Arg2341_Met2342dup
  • NP_003118.2:p.Arg2303_Met2304dup
  • NC_000009.11:g.131394560GCATGC[3]
  • NM_001130438.2:c.6923_6928dupGCATGC
  • NM_001130438.3:c.6923_6928dupMANE SELECT
  • p.R2308_M2309dup
Links:
OMIM: 182810.0002; dbSNP: rs796053335
NCBI 1000 Genomes Browser:
rs796053335
Molecular consequence:
  • NM_001130438.3:c.6917GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195532.2:c.6842GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001363759.2:c.6980GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001363765.2:c.6857GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375310.1:c.7004GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375311.2:c.6917GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375312.2:c.6953GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375313.1:c.6899GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375314.2:c.6857GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375318.1:c.7016GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_003127.4:c.6902GCATGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
1

Condition(s)

Name:
Epileptic encephalopathy
Identifiers:
MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494544Neurogenetics Laboratory - MEYER, AOU Meyer
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 16, 2016)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1noclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neurogenetics Laboratory - MEYER, AOU Meyer, SCV000494544.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024