NM_005477.3(HCN4):c.2782C>G (p.Pro928Ala) AND Brugada syndrome 8

Clinical significance:Uncertain significance (Last evaluated: Apr 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000853600.1

Allele description [Variation Report for NM_005477.3(HCN4):c.2782C>G (p.Pro928Ala)]

NM_005477.3(HCN4):c.2782C>G (p.Pro928Ala)

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.2782C>G (p.Pro928Ala)
HGVS:
  • NC_000015.10:g.73323311G>C
  • NG_009063.1:g.50954C>G
  • NM_005477.3:c.2782C>GMANE SELECT
  • NP_005468.1:p.Pro928Ala
  • NC_000015.9:g.73615652G>C
  • NM_005477.2:c.2782C>G
Protein change:
P928A
Links:
dbSNP: rs1482640658
NCBI 1000 Genomes Browser:
rs1482640658
Molecular consequence:
  • NM_005477.3:c.2782C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brugada syndrome 8 (BRGDA8)
Identifiers:
MONDO: MONDO:0013148; MedGen: C2751083; Orphanet: 130; OMIM: 613123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000996568Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleaguescriteria provided, single submitter
Uncertain significance
(Apr 9, 2019)
unknownclinical testing

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

Summary from all submissions

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

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 Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, SCV000996568.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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