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NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 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:
RCV000212497.14

Allele description [Variation Report for NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)]

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223517GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 2, 2023) 		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, SCV000223517.14

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Multiple functional studies demonstrate that M54T has a significant effect on potassium ion channel function in the heart (Abbott et al., 1999; Lu et al., 2003; McCrossan et al., 2009; Wu et al., 2010); This variant is associated with the following publications: (PMID: 20042375, 31447099, 31737537, 24569893, 24631769, 25333069, 10984545, 24631775, 26159999, 12923204, 19716085, 22677073, 23631727, 26859003, 28316956, 28794082, 10219239, 22378279, 25637381, 18006462, 14760488, 29661707, 30123799, 34426522, 19219384, 32078429, 33626434, 34930020, 31980526, 34709746, 33324689, 34247280, 23936059, 35125083, 31235733)

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

Last Updated: May 12, 2024