NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Aug 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001080455.2

Allele description [Variation Report for NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=)]

NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=)

Gene:
KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=)
HGVS:
  • NC_000009.12:g.135784829C>T
  • NG_033070.1:g.87645C>T
  • NM_001272003.2:c.2961C>T
  • NM_020822.3:c.3096C>TMANE SELECT
  • NP_001258932.1:p.Ser987=
  • NP_065873.2:p.Ser1032=
  • NC_000009.11:g.138676675C>T
  • NM_020822.2:c.3096C>T
Links:
dbSNP: rs1360446142
NCBI 1000 Genomes Browser:
rs1360446142
Molecular consequence:
  • NM_001272003.2:c.2961C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020822.3:c.3096C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Early infantile epileptic encephalopathy 14 (DEE14)
Synonyms:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
Identifiers:
MONDO: MONDO:0013989; MedGen: C3554195; Orphanet: 293181; OMIM: 614959
Name:
Epilepsy, nocturnal frontal lobe, 5 (ENFL5)
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS
Identifiers:
MONDO: MONDO:0014002; MedGen: C3554306; Orphanet: 98784; OMIM: 615005

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001012218Invitaecriteria provided, single submitter
Likely benign
(Aug 20, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001012218.3

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

Last Updated: Jun 6, 2021

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