NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) AND Long QT syndrome 5

Germline classification:: Benign (2 submissions)
Last evaluated:: Aug 19, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001094634.14

Allele description [Variation Report for NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)]

NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)

Gene:

KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

Preferred name:

NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)

Other names:

p.S38G:AGT>GGT

HGVS:

NC_000021.9:g.34449523T>C
NG_009091.1:g.66793A>G
NM_000219.6:c.112A>GMANE SELECT
NM_001127668.4:c.112A>G
NM_001127669.4:c.112A>G
NM_001127670.4:c.112A>G
NM_001270402.3:c.112A>G
NM_001270403.2:c.112A>G
NM_001270404.3:c.112A>G
NM_001270405.3:c.112A>G
NP_000210.2:p.Ser38Gly
NP_001121140.1:p.Ser38Gly
NP_001121141.1:p.Ser38Gly
NP_001121142.1: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.112A>G
LRG_290:g.66793A>G
NC_000021.8:g.35821821T>C
NM_000219.3:c.112A>G
NM_000219.4:c.112A>G
NM_000219.5:c.112A>G
NM_000219.6:c.112A>G
NM_001127670.3:c.112A>G
P15382:p.Ser38Gly
c.112A>G

Protein change:

S38G

Links:

UniProtKB: P15382#VAR_001558; dbSNP: rs1805127

NCBI 1000 Genomes Browser:

rs1805127

Molecular consequence:

NM_000219.6:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127668.4:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127669.4:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127670.4:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270402.3:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270403.2:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270404.3:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270405.3:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Long QT syndrome 5 (LQT5)
Identifiers:: MONDO: MONDO:0013372; MedGen: C1867904; Orphanet: 101016; Orphanet: 768; OMIM: 613695

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000435789	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	Citation Link,
SCV001980873	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 19, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000435789

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

Citation Link,

SCV001980873

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 19, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000435789.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV001980873.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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