NM_021072.4(HCN1):c.1429G>A (p.Ala477Thr) AND Generalized epilepsy with febrile seizures plus, type 10

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 18, 2021
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:: RCV001771812.2

Allele description [Variation Report for NM_021072.4(HCN1):c.1429G>A (p.Ala477Thr)]

NM_021072.4(HCN1):c.1429G>A (p.Ala477Thr)

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.1429G>A (p.Ala477Thr)

HGVS:

NC_000005.10:g.45303788C>T
NG_042183.1:g.397331G>A
NM_021072.4:c.1429G>AMANE SELECT
NP_066550.2:p.Ala477Thr
NC_000005.9:g.45303890C>T

Protein change:

A477T

Links:

dbSNP: rs1353247808

NCBI 1000 Genomes Browser:

rs1353247808

Molecular consequence:

NM_021072.4:c.1429G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002011751	Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	no assertion criteria provided	Uncertain significance (Jun 18, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002011751

Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

no assertion criteria provided

Uncertain significance
(Jun 18, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV002011751.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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