NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 29, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000379734.3

Allele description [Variation Report for NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)]

NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)

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.2197G>A (p.Val733Ile)
HGVS:
  • NC_000015.10:g.73323896C>T
  • NG_009063.1:g.50369G>A
  • NM_005477.3:c.2197G>AMANE SELECT
  • NP_005468.1:p.Val733Ile
  • NC_000015.9:g.73616237C>T
  • NM_005477.2:c.2197G>A
Protein change:
V733I
Links:
dbSNP: rs376631391
NCBI 1000 Genomes Browser:
rs376631391
Molecular consequence:
  • NM_005477.3:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000332956EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 20, 2015)
germlineclinical testing

Citation Link,

SCV001826240GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 29, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000332956.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001826240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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

Last Updated: Oct 8, 2021

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