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NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 23, 2023
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:
RCV002356365.3

Allele description [Variation Report for NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)]

NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)

Gene:
KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
HGVS:
  • NC_000017.11:g.70175655G>A
  • NG_008798.1:g.11121G>A
  • NM_000891.3:c.616G>AMANE SELECT
  • NP_000882.1:p.Gly206Ser
  • NP_000882.1:p.Gly206Ser
  • LRG_328t1:c.616G>A
  • LRG_328:g.11121G>A
  • LRG_328p1:p.Gly206Ser
  • NC_000017.10:g.68171796G>A
  • NM_000891.2:c.616G>A
Protein change:
G206S
Links:
dbSNP: rs141035459
NCBI 1000 Genomes Browser:
rs141035459
Molecular consequence:
  • NM_000891.3:c.616G>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
SCV002654537Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Feb 23, 2023) 		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

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D, Chung WK.

Genet Test Mol Biomarkers. 2013 Jul;17(7):553-61. doi: 10.1089/gtmb.2012.0118. Epub 2013 Apr 30.

PubMed [citation]
PMID:
23631430

Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation.

Ghouse J, Skov MW, Bigseth RS, Ahlberg G, Kanters JK, Olesen MS.

Clin Genet. 2018 Mar;93(3):459-466. doi: 10.1111/cge.13066. Epub 2017 Sep 18. Review.

PubMed [citation]
PMID:
28589536

Details of each submission

From Ambry Genetics, SCV002654537.3

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

Description

This alteration is classified as 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: Sep 29, 2024