NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup) AND Jervell and Lange-Nielsen syndrome 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 19, 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:: RCV002466573.1

Allele description [Variation Report for NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup)]

NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

21q22.12

Genomic location:

Preferred name:

NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup)

HGVS:

NC_000021.9:g.34449294_34449302dup
NG_009091.1:g.67015_67023dup
NM_000219.6:c.334_342dupMANE SELECT
NM_001127668.4:c.334_342dup
NM_001127669.4:c.334_342dup
NM_001127670.4:c.334_342dup
NM_001270402.3:c.334_342dup
NM_001270403.2:c.334_342dup
NM_001270404.3:c.334_342dup
NM_001270405.3:c.334_342dup
NP_000210.2:p.His112_Ala114dup
NP_001121140.1:p.His112_Ala114dup
NP_001121141.1:p.His112_Ala114dup
NP_001121142.1:p.His112_Ala114dup
NP_001257331.1:p.His112_Ala114dup
NP_001257332.1:p.His112_Ala114dup
NP_001257333.1:p.His112_Ala114dup
NP_001257334.1:p.His112_Ala114dup
LRG_290:g.67015_67023dup
NC_000021.8:g.35821590_35821591insGGCCAGATG
NC_000021.8:g.35821592_35821600dup
NM_000219.5:c.334_342dupCATCTGGCC
NM_000219.6:c.334_342dupCATCTGGCCMANE SELECT

Links:

dbSNP: rs1374867074

NCBI 1000 Genomes Browser:

rs1374867074

Molecular consequence:

NM_000219.6:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127668.4:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127669.4:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127670.4:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001270402.3:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001270403.2:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001270404.3:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001270405.3:c.334_342dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Jervell and Lange-Nielsen syndrome 2 (JLNS2)
Identifiers:: MONDO: MONDO:0012871; MedGen: C2676723; Orphanet: 768; Orphanet: 90647; OMIM: 612347

Recent activity

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601495552F1 NIH_MGC_70 Homo sapiens cDNA clone IMAGE:3897637 5', mRNA sequence
601495552F1 NIH_MGC_70 Homo sapiens cDNA clone IMAGE:3897637 5', mRNA sequence
gi|10399231|gnl|dbEST|6199850|gb|BE 0.1|

Nucleotide
bl42d11.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
bl42d11.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0042D11 5', mRNA sequence
gi|7393154|gnl|dbEST|4072599|gb|AW6 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002761898	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 19, 2022)	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

SCV002761898

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 19, 2022)

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	yes	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 Genetics and Molecular Pathology, SA Pathology, SCV002761898.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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