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NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) AND Developmental and epileptic encephalopathy, 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 11, 2017
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:
RCV000519927.2

Allele description [Variation Report for NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter)]

NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter)

Gene:
SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter)
HGVS:
  • NC_000009.12:g.128617673C>G
  • NG_027748.1:g.70116C>G
  • NM_001130438.3:c.5391C>GMANE SELECT
  • NM_001195532.2:c.5316C>G
  • NM_001363759.2:c.5391C>G
  • NM_001363765.2:c.5331C>G
  • NM_003127.4:c.5376C>G
  • NP_001123910.1:p.Tyr1797Ter
  • NP_001182461.1:p.Tyr1772Ter
  • NP_001350688.1:p.Tyr1797Ter
  • NP_001350694.1:p.Tyr1777Ter
  • NP_003118.2:p.Tyr1792Ter
  • NC_000009.11:g.131379952C>G
  • NM_001130438.2:c.5391C>G
Protein change:
Y1772*
Links:
dbSNP: rs146418243
NCBI 1000 Genomes Browser:
rs146418243
Molecular consequence:
  • NM_001130438.3:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195532.2:c.5316C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363759.2:c.5391C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363765.2:c.5331C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003127.4:c.5376C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 5 (DEE5)
Synonyms:
Early infantile epileptic encephalopathy 5
Identifiers:
MONDO: MONDO:0013277; MedGen: C3150731; Orphanet: 3451; OMIM: 613477

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000616603Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 11, 2017) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical 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 Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV000616603.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024