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NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) AND Cardiac arrhythmia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001841228.9

Allele description

NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)

Genes:
KCNE2:potassium voltage-gated channel subfamily E regulatory subunit 2 [Gene - OMIM - HGNC]
LOC105372791:uncharacterized LOC105372791 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
Other names:
p.M54T:ATG>ACG
HGVS:
  • NC_000021.9:g.34370639T>C
  • NG_008804.1:g.11616T>C
  • NM_172201.2:c.161T>CMANE SELECT
  • NP_751951.1:p.Met54Thr
  • NP_751951.1:p.Met54Thr
  • LRG_291t1:c.161T>C
  • LRG_291:g.11616T>C
  • LRG_291p1:p.Met54Thr
  • NC_000021.8:g.35742938T>C
  • NM_172201.1:c.161T>C
  • Q9Y6J6:p.Met54Thr
Protein change:
M54T; MET54THR
Links:
UniProtKB: Q9Y6J6#VAR_008377; OMIM: 603796.0002; dbSNP: rs74315447
NCBI 1000 Genomes Browser:
rs74315447
Molecular consequence:
  • NM_172201.2:c.161T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac arrhythmia
Synonyms:
Cardiac rhythm disease
Identifiers:
EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190230CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Likely pathogenic
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024