Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_005477.3(HCN4):c.3599_3600inv (p.Pro1200Leu)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Apr 2, 2018
Accession:
VCV000575303.1
Variation ID:
575303
Description:
2bp inversion
Help

NM_005477.3(HCN4):c.3599_3600inv (p.Pro1200Leu)

Allele ID
567243
Variant type
Inversion
Variant length
2 bp
Cytogenetic location
15q24.1
Genomic location
15: 73322493-73322494 (GRCh38) GRCh38 UCSC
15: 73614834-73614835 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73322493_73322494inv
NC_000015.9:g.73614834_73614835inv
NG_009063.1:g.51771_51772inv
NM_005477.3:c.3599_3600inv MANE Select NP_005468.1:p.Pro1200Leu missense
Protein change
P1200L
Other names
-
Canonical SPDI
NC_000015.10:73322492:TG:CA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 2, 2018 RCV000697483.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HCN4 - - GRCh38
GRCh37
782 816

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 02, 2018)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000826097.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces proline with leucine at codon 1200 of the HCN4 protein (p.Pro1200Leu). The proline residue is highly conserved and there is a … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Oct 08, 2021