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NM_005477.3(HCN4):c.2500_2501insG (p.Pro834fs) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2016
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:
RCV000623481.2

Allele description [Variation Report for NM_005477.3(HCN4):c.2500_2501insG (p.Pro834fs)]

NM_005477.3(HCN4):c.2500_2501insG (p.Pro834fs)

Gene:
HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_005477.3(HCN4):c.2500_2501insG (p.Pro834fs)
HGVS:
  • NC_000015.10:g.73323592_73323593insC
  • NG_009063.1:g.50672_50673insG
  • NM_005477.3:c.2500_2501insGMANE SELECT
  • NP_005468.1:p.Pro834fs
  • NC_000015.9:g.73615933_73615934insC
  • NM_005477.2:c.2500_2501insG
Protein change:
P834fs
Links:
dbSNP: rs1555475311
NCBI 1000 Genomes Browser:
rs1555475311
Molecular consequence:
  • NM_005477.3:c.2500_2501insG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741390Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Uncertain significance
(Aug 22, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
English/Spanish/French/Maltesiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741390.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1English/Spanish/French/Maltesian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023