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NM_000525.4(KCNJ11):c.*766G>A AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
May 1, 2023
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:
RCV002281159.9

Allele description [Variation Report for NM_000525.4(KCNJ11):c.*766G>A]

NM_000525.4(KCNJ11):c.*766G>A

Gene:
KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.4(KCNJ11):c.*766G>A
HGVS:
  • NC_000011.10:g.17386153C>T
  • NG_012446.1:g.7507G>A
  • NM_000525.4:c.*766G>AMANE SELECT
  • NM_001166290.2:c.*766G>A
  • NM_001377296.1:c.*766G>A
  • NM_001377297.1:c.*766G>A
  • NC_000011.9:g.17407700C>T
  • NM_000525.3:c.*766G>A
Links:
dbSNP: rs193101892
NCBI 1000 Genomes Browser:
rs193101892
Molecular consequence:
  • NM_000525.4:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166290.2:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377296.1:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377297.1:c.*766G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002569617GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(May 23, 2021)
germlineclinical testing

Citation Link,

SCV004136020CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(May 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002569617.2

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

Description

See Variant Classification Assertion Criteria.

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

From CeGaT Center for Human Genetics Tuebingen, SCV004136020.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided

Description

KCNJ11: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Jul 15, 2024