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NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 19, 2020
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:
RCV002381433.2

Allele description [Variation Report for NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)]

NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)

Gene:
KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)
Other names:
KCNJ5, GLY247ARG (rs200170681)
HGVS:
  • NC_000011.10:g.128912012G>A
  • NG_023406.2:g.25595G>A
  • NM_000890.5:c.739G>AMANE SELECT
  • NM_001354169.2:c.739G>A
  • NP_000881.3:p.Gly247Arg
  • NP_001341098.1:p.Gly247Arg
  • LRG_333t1:c.739G>A
  • LRG_333:g.25595G>A
  • NC_000011.9:g.128781907G>A
  • NM_000890.3:c.739G>A
Protein change:
G247R; GLY247ARG
Links:
OMIM: 600734.0003; dbSNP: rs200170681
NCBI 1000 Genomes Browser:
rs200170681
Molecular consequence:
  • NM_000890.5:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354169.2:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002671204Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 19, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit.

Calloe K, Ravn LS, Schmitt N, Sui JL, Duno M, Haunso S, Grunnet M, Svendsen JH, Olesen SP.

Biochem Biophys Res Commun. 2007 Dec 28;364(4):889-95. Epub 2007 Oct 29.

PubMed [citation]
PMID:
17967416

Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.

Murthy M, Xu S, Massimo G, Wolley M, Gordon RD, Stowasser M, O'Shaughnessy KM.

Hypertension. 2014 Apr;63(4):783-9. doi: 10.1161/HYPERTENSIONAHA.113.02234. Epub 2014 Jan 13.

PubMed [citation]
PMID:
24420545

Details of each submission

From Ambry Genetics, SCV002671204.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 8, 2024