U.S. flag

An official website of the United States government

NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 19, 2024
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:
RCV004526676.2

Allele description [Variation Report for NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)]

NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)

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.3304C>T (p.Arg1102Cys)
HGVS:
  • NC_000015.10:g.73322789G>A
  • NG_009063.1:g.51476C>T
  • NM_005477.3:c.3304C>TMANE SELECT
  • NP_005468.1:p.Arg1102Cys
  • NC_000015.9:g.73615130G>A
  • NM_005477.2:c.3304C>T
Protein change:
R1102C
Links:
dbSNP: rs760392343
NCBI 1000 Genomes Browser:
rs760392343
Molecular consequence:
  • NM_005477.3:c.3304C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005039707Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 19, 2024) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E, Gréen A, Gustavsson P, Liedén A, Nordenskjöld M, Papadogiannakis N, Pettersson K, Nilsson D, Jonasson J, Iwarsson E.

PLoS One. 2019;14(1):e0210017. doi: 10.1371/journal.pone.0210017.

PubMed [citation]
PMID:
30615648
PMCID:
PMC6322759

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005039707.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: HCN4 c.3304C>T (p.Arg1102Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.1e-05 in 158982 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3304C>T has been reported in the literature as a VUS in a stillborn infant (e.g. Sahlin_2019). This report does not provide unequivocal conclusions about association of the variant with Sick Sinus Syndrome 2. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30615648). ClinVar contains an entry for this variant (Variation ID: 404129). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024