NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 25, 2016
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:: RCV000478086.1

Allele description [Variation Report for NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp)]

NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp)

Gene:

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

Variant type:

Indel

Cytogenetic location:

21q22.12

Genomic location:

Preferred name:

NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp)

HGVS:

NC_000021.9:g.34449522_34449523delinsTC
NG_009091.1:g.66793_66794delinsGA
NM_000219.6:c.112_113delinsGAMANE SELECT
NM_001127668.4:c.112_113delinsGA
NM_001127669.4:c.112_113delinsGA
NM_001127670.4:c.112_113delinsGA
NM_001270402.3:c.112_113delinsGA
NM_001270403.2:c.112_113delinsGA
NM_001270404.3:c.112_113delinsGA
NM_001270405.3:c.112_113delinsGA
NP_000210.2:p.Ser38Asp
NP_001121140.1:p.Ser38Asp
NP_001121141.1:p.Ser38Asp
NP_001121142.1:p.Ser38Asp
NP_001257331.1:p.Ser38Asp
NP_001257332.1:p.Ser38Asp
NP_001257333.1:p.Ser38Asp
NP_001257334.1:p.Ser38Asp
LRG_290t1:c.112_113delAGinsGA
LRG_290:g.66793_66794delinsGA
NC_000021.8:g.35821820_35821821delinsTC
NM_000219.3:c.112_113delAGinsGA

Protein change:

S38D

Links:

dbSNP: rs1064795410

NCBI 1000 Genomes Browser:

rs1064795410

Molecular consequence:

NM_000219.6:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001127668.4:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001127669.4:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001127670.4:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001270402.3:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001270403.2:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001270404.3:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001270405.3:c.112_113delinsGA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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polyketide synthase Pks2 [Mycobacterium tuberculosis M1929]
polyketide synthase Pks2 [Mycobacterium tuberculosis M1929]
gi|622575584|gb|KBB57197.1||gnl|WGS |AO53_00327T0

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571186	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Jul 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571186

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Jul 25, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000571186.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024

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