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NM_002246.3(KCNK3):c.1169G>A (p.Arg390His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Jun 27, 2018
Accession:
VCV000576185.1
Variation ID:
576185
Description:
single nucleotide variant
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NM_002246.3(KCNK3):c.1169G>A (p.Arg390His)

Allele ID
560565
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 26728552 (GRCh38) GRCh38 UCSC
2: 26951420 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.26951420G>A
NC_000002.12:g.26728552G>A
NM_002246.3:c.1169G>A NP_002237.1:p.Arg390His missense
NG_033884.1:g.40840G>A
Protein change
R390H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 27, 2018 RCV000698618.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNK3 - - GRCh38
GRCh37
30 45

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 27, 2018)
criteria provided, single submitter
Method: clinical testing
Primary pulmonary hypertension 4
Allele origin: germline
Invitae
Accession: SCV000827294.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with histidine at codon 390 of the KCNK3 protein (p.Arg390His). The arginine residue is moderately conserved and there is a ... (more)

Citations for this variant

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 Aug 25, 2019