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NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535632.2

Allele description [Variation Report for NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)]

NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)

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.431G>A (p.Gly144Asp)
HGVS:
  • NC_000017.11:g.70175470G>A
  • NG_008798.1:g.10936G>A
  • NM_000891.3:c.431G>AMANE SELECT
  • NP_000882.1:p.Gly144Asp
  • NP_000882.1:p.Gly144Asp
  • LRG_328t1:c.431G>A
  • LRG_328:g.10936G>A
  • LRG_328p1:p.Gly144Asp
  • NC_000017.10:g.68171611G>A
  • NM_000891.2:c.431G>A
Protein change:
G144D
Links:
dbSNP: rs199473377
NCBI 1000 Genomes Browser:
rs199473377
Molecular consequence:
  • NM_000891.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Andersen Tawil syndrome (LQT7)
Synonyms:
Andersen Syndrome; Andersen cardiodysrhythmic periodic paralysis; Long QT syndrome 7; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008222; MedGen: C1563715; Orphanet: 37553; OMIM: 170390
Name:
Short QT syndrome type 3
Identifiers:
MONDO: MONDO:0012314; MedGen: C1865018; Orphanet: 51083; OMIM: 609622
Name:
Atrial fibrillation, familial, 9 (ATFB9)
Identifiers:
MONDO: MONDO:0013513; MedGen: C3151431; OMIM: 613980

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749660GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749660.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 12-08-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024