U.S. flag

An official website of the United States government

NM_000891.3(KCNJ2):c.853C>T (p.Gln285Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 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:
RCV000598639.1

Allele description [Variation Report for NM_000891.3(KCNJ2):c.853C>T (p.Gln285Ter)]

NM_000891.3(KCNJ2):c.853C>T (p.Gln285Ter)

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.853C>T (p.Gln285Ter)
HGVS:
  • NC_000017.11:g.70175892C>T
  • NG_008798.1:g.11358C>T
  • NM_000891.3:c.853C>TMANE SELECT
  • NP_000882.1:p.Gln285Ter
  • NP_000882.1:p.Gln285Ter
  • LRG_328t1:c.853C>T
  • LRG_328:g.11358C>T
  • LRG_328p1:p.Gln285Ter
  • NC_000017.10:g.68172033C>T
  • NM_000891.2:c.853C>T
Protein change:
Q285*
Links:
dbSNP: rs776976697
NCBI 1000 Genomes Browser:
rs776976697
Molecular consequence:
  • NM_000891.3:c.853C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000709858GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 11, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000709858.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A novel Q285X variant of uncertain significance was identified in the KCNJ2 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q285X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. While, the Q285X is predicted to cause loss of normal protein function by protein truncation, the majority of pathogenic variants reported in the Human Gene Mutation Database associated with ATS (Stenson et al., 2014) are missense variants with only two nonsense pathogenic variants reported.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Apr 23, 2022