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NM_021072.4(HCN1):c.986G>C (p.Cys329Ser) AND Generalized epilepsy with febrile seizures plus, type 10

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 25, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000786051.1

Allele description [Variation Report for NM_021072.4(HCN1):c.986G>C (p.Cys329Ser)]

NM_021072.4(HCN1):c.986G>C (p.Cys329Ser)

Gene:
HCN1:hyperpolarization activated cyclic nucleotide gated potassium channel 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p12
Genomic location:
Preferred name:
NM_021072.4(HCN1):c.986G>C (p.Cys329Ser)
HGVS:
  • NC_000005.10:g.45461871C>G
  • NG_042183.1:g.239248G>C
  • NM_021072.4:c.986G>CMANE SELECT
  • NP_066550.2:p.Cys329Ser
  • NC_000005.9:g.45461973C>G
  • NM_021072.3:c.986G>C
Protein change:
C329S; CYS329SER
Links:
OMIM: 602780.0011; dbSNP: rs1318391259
NCBI 1000 Genomes Browser:
rs1318391259
Molecular consequence:
  • NM_021072.4:c.986G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Generalized epilepsy with febrile seizures plus, type 10
Synonyms:
GEFS+, TYPE 10
Identifiers:
MONDO: MONDO:0032777; MedGen: C5193120; OMIM: 618482

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924672OMIM
no assertion criteria provided
Pathogenic
(Jun 25, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, et al.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

PubMed [citation]
PMID:
30351409

Details of each submission

From OMIM, SCV000924672.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 5 members of an Italian family (family M1) with generalized epilepsy with febrile seizures plus-10 (GEFSP10; 618482), Marini et al. (2018) identified a heterozygous c.986G-C transversion (c.986G-C, NM_021072.3) in exon 3 of the HCN1 gene, resulting in a cys329-to-ser (C329S) substitution at a conserved residue outside of the S5 transmembrane domain. The mutation, which was found by sequencing of an epilepsy gene panel and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the gnomAD database. In vitro functional expression studies showed that the mutation resulted in a smaller current density compared to wildtype. Activation and deactivation kinetics were unaffected.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022