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NM_000890.5(KCNJ5):c.1163dup (p.Cys389fs) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2020
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:
RCV002252472.2

Allele description [Variation Report for NM_000890.5(KCNJ5):c.1163dup (p.Cys389fs)]

NM_000890.5(KCNJ5):c.1163dup (p.Cys389fs)

Gene:
KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_000890.5(KCNJ5):c.1163dup (p.Cys389fs)
HGVS:
  • NC_000011.10:g.128916634dup
  • NG_023406.2:g.30217dup
  • NM_000890.5:c.1163dupMANE SELECT
  • NM_001354169.2:c.1163dup
  • NP_000881.3:p.Cys389fs
  • NP_001341098.1:p.Cys389fs
  • LRG_333:g.30217dup
  • NC_000011.9:g.128786529dup
  • NM_000890.5:c.1158dupGMANE SELECT
Protein change:
C389fs
Links:
dbSNP: rs1944587149
NCBI 1000 Genomes Browser:
rs1944587149
Molecular consequence:
  • NM_000890.5:c.1163dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354169.2:c.1163dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523692Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 4, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523692.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2, PP3

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

Last Updated: Dec 24, 2023