NM_005477.3(HCN4):c.1987C>A (p.Leu663Met) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 13, 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:: RCV002486182.1

Allele description [Variation Report for NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)]

NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)

Gene:

HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)

HGVS:

NC_000015.10:g.73324245G>T
NG_009063.1:g.50020C>A
NM_005477.3:c.1987C>AMANE SELECT
NP_005468.1:p.Leu663Met
NC_000015.9:g.73616586G>T

Protein change:

L663M

Links:

dbSNP: rs1265876338

NCBI 1000 Genomes Browser:

rs1265876338

Molecular consequence:

NM_005477.3:c.1987C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Sick sinus syndrome 2, autosomal dominant (SSS2)
Synonyms:: ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008102; MedGen: C1834144; Orphanet: 166282; OMIM: 163800

Name:: Brugada syndrome 8 (BRGDA8)
Identifiers:: MONDO: MONDO:0013148; MedGen: C2751083; Orphanet: 130; OMIM: 613123

Name:: Epilepsy, idiopathic generalized, susceptibility to, 18
Identifiers:: MONDO: MONDO:0030434; MedGen: C5561983; OMIM: 619521

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002785495	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 13, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002785495

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 13, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002785495.1

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

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

Last Updated: Sep 29, 2024

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