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NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2022
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:
RCV002339811.2

Allele description [Variation Report for NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu)]

NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu)

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.3583G>T (p.Val1195Leu)
HGVS:
  • NC_000015.10:g.73322510C>A
  • NG_009063.1:g.51755G>T
  • NM_005477.3:c.3583G>TMANE SELECT
  • NP_005468.1:p.Val1195Leu
  • NC_000015.9:g.73614851C>A
  • NM_005477.2:c.3583G>T
Protein change:
V1195L
Molecular consequence:
  • NM_005477.3:c.3583G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002619272Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 3, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

A Functional Assay for Sick Sinus Syndrome Genetic Variants.

Jou CJ, Arrington CB, Barnett S, Shen J, Cho S, Sheng X, McCullagh PC, Bowles NE, Pribble CM, Saarel EV, Pilcher TA, Etheridge SP, Tristani-Firouzi M.

Cell Physiol Biochem. 2017;42(5):2021-2029. doi: 10.1159/000479897. Epub 2017 Aug 11.

PubMed [citation]
PMID:
28803248

Details of each submission

From Ambry Genetics, SCV002619272.2

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

Description

The p.V1195L variant (also known as c.3583G>T), located in coding exon 8 of the HCN4 gene, results from a G to T substitution at nucleotide position 3583. The valine at codon 1195 is replaced by leucine, an amino acid with highly similar properties. In vivo studies suggest this alteration does not impact protein function (Jou CJ et al. Cell Physiol Biochem, 2017 Aug;42:2021-2029). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024