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NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 26, 2022
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:
RCV002431536.2

Allele description [Variation Report for NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)]

NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)

Gene:
KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
HGVS:
  • NC_000021.9:g.34449523_34449524inv
  • NG_009091.1:g.66792_66793inv
  • NM_000219.6:c.111_112invMANE SELECT
  • NM_001127668.4:c.111_112inv
  • NM_001127669.4:c.111_112inv
  • NM_001127670.4:c.111_112inv
  • NM_001270402.3:c.111_112inv
  • NM_001270403.2:c.111_112inv
  • NM_001270404.3:c.111_112inv
  • NM_001270405.3:c.111_112inv
  • NP_000210.2:p.Ser38Gly
  • NP_001121140.1:p.Ser38Gly
  • NP_001121141.1:p.Ser38Gly
  • NP_001121142.1:p.Ser38Gly
  • NP_001257331.1:p.Ser38Gly
  • NP_001257332.1:p.Ser38Gly
  • NP_001257333.1:p.Ser38Gly
  • NP_001257334.1:p.Ser38Gly
  • LRG_290t1:c.111_112delCAinsTG
  • LRG_290:g.66792_66793inv
  • NC_000021.8:g.35821821_35821822delinsCA
  • NC_000021.8:g.35821821_35821822inv
  • NM_000219.3:c.111_112delCAinsTG
  • NM_000219.5:c.111_112delinsTG
  • NM_000219.5:c.111_112invCA
  • NM_000219.6:c.111_112delinsTGMANE SELECT
Protein change:
S38G
Links:
Molecular consequence:
  • NM_000219.6:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127668.4:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127669.4:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127670.4:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270402.3:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270403.2:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270404.3:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270405.3:c.111_112inv - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002742713Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Apr 26, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002742713.2

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

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