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NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) AND Undetermined early-onset epileptic encephalopathy

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:
RCV001249449.9

Allele description [Variation Report for NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])]

NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])

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.6899ACCAGCTGG[3] (p.2300DQL[3])
HGVS:
  • NC_000009.12:g.128632263ACCAGCTGG[3]
  • NG_027748.1:g.84706ACCAGCTGG[3]
  • NG_034056.1:g.29573AGCTGGTCC[3]
  • NM_001130438.2:c.6908_6916dup9
  • NM_001130438.3:c.6899ACCAGCTGG[3]MANE SELECT
  • NM_001195532.2:c.6824ACCAGCTGG[3]
  • NM_001363759.2:c.6962ACCAGCTGG[3]
  • NM_001363765.2:c.6839ACCAGCTGG[3]
  • NM_001375310.1:c.6986ACCAGCTGG[3]
  • NM_001375311.2:c.6899ACCAGCTGG[3]
  • NM_001375312.2:c.6935ACCAGCTGG[3]
  • NM_001375313.1:c.6881ACCAGCTGG[3]
  • NM_001375314.2:c.6839ACCAGCTGG[3]
  • NM_001375318.1:c.6998ACCAGCTGG[3]
  • NM_003127.4:c.6884ACCAGCTGG[3]
  • NP_001123910.1:p.2300DQL[3]
  • NP_001182461.1:p.2275DQL[3]
  • NP_001350688.1:p.2321DQL[3]
  • NP_001350694.1:p.2280DQL[3]
  • NP_001362239.1:p.2329DQL[3]
  • NP_001362240.1:p.2300DQL[3]
  • NP_001362241.2:p.2312DQL[3]
  • NP_001362242.1:p.2294DQL[3]
  • NP_001362243.1:p.2280DQL[3]
  • NP_001362247.1:p.2333DQL[3]
  • NP_003118.2:p.2295DQL[3]
  • NC_000009.11:g.131394539_131394540insGGACCAGCT
  • NC_000009.11:g.131394542ACCAGCTGG[3]
  • NC_000009.12:g.128632260_128632261insGGACCAGCT
  • NM_001130438.2:c.6908_6916dupACCAGCTGG
  • NM_001130438.3:c.6908_6916dupMANE SELECT
  • NM_003127.4:c.6881_6882insGGACCAGCT
  • p.D2303_L2305dup
  • p.Leu2305_Gly2306insAspGlnLeu
Links:
OMIM: 182810.0005; dbSNP: rs587784440
NCBI 1000 Genomes Browser:
rs587784440
Molecular consequence:
  • NM_001130438.3:c.6899ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195532.2:c.6824ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001363759.2:c.6962ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001363765.2:c.6839ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375310.1:c.6986ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375311.2:c.6899ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375312.2:c.6935ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375313.1:c.6881ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375314.2:c.6839ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375318.1:c.6998ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_003127.4:c.6884ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Undetermined early-onset epileptic encephalopathy
Identifiers:
MONDO: MONDO:0018614; MedGen: C5680057

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001423461GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Pathogenic and reported on 08-28-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024