NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) AND Sinoatrial node disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 5, 2018
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:: RCV000171563.3

Allele description [Variation Report for NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)]

NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)

HGVS:

NC_000015.10:g.73322588CAAA[1]
NG_009063.1:g.51670TTTG[1]
NM_005477.3:c.3502_3505delMANE SELECT
NP_005468.1:p.Phe1168fs
NC_000015.9:g.73614929CAAA[1]
NC_000015.9:g.73614929_73614932del
NM_005477.2:c.3502_3505del
NM_005477.2:c.3502_3505delTTTG

Protein change:

F1168fs

Links:

dbSNP: rs786205259

NCBI 1000 Genomes Browser:

rs786205259

Molecular consequence:

NM_005477.3:c.3502_3505del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Sinoatrial node disorder
Synonyms:: Sinus node disease; Sinoatrial node disease
Identifiers:: MONDO: MONDO:0000469; MedGen: C0428908

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000050608	Biesecker Lab/Clinical Genomics Section, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 5, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000050608

Biesecker Lab/Clinical Genomics Section, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 5, 2018)

unknown

research

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	no	1	not provided	not provided	not provided	not provided	research

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 Biesecker Lab/Clinical Genomics Section, National Institutes of Health, SCV000050608.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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