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NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) AND Developmental and epileptic encephalopathy, 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV001809443.4

Allele description [Variation Report for NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)]

NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)

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.2746A>G (p.Thr916Ala)
HGVS:
  • NC_000009.12:g.128585933A>G
  • NG_027748.1:g.38376A>G
  • NM_001130438.3:c.2746A>GMANE SELECT
  • NM_001195532.2:c.2746A>G
  • NM_001363759.2:c.2746A>G
  • NM_001363765.2:c.2746A>G
  • NM_003127.4:c.2746A>G
  • NP_001123910.1:p.Thr916Ala
  • NP_001182461.1:p.Thr916Ala
  • NP_001350688.1:p.Thr916Ala
  • NP_001350694.1:p.Thr916Ala
  • NP_003118.2:p.Thr916Ala
  • NC_000009.11:g.131348212A>G
  • NM_001130438.2:c.2746A>G
Protein change:
T916A
Links:
dbSNP: rs1064797353
NCBI 1000 Genomes Browser:
rs1064797353
Molecular consequence:
  • NM_001130438.3:c.2746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195532.2:c.2746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363759.2:c.2746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363765.2:c.2746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003127.4:c.2746A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002056751Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 15, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002056751.1

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

Last Updated: Oct 20, 2024