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NM_000525.4(KCNJ11):c.918C>T (p.Ala306=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 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:
RCV002377780.2

Allele description [Variation Report for NM_000525.4(KCNJ11):c.918C>T (p.Ala306=)]

NM_000525.4(KCNJ11):c.918C>T (p.Ala306=)

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.918C>T (p.Ala306=)
HGVS:
  • NC_000011.10:g.17387174G>A
  • NG_012446.1:g.6486C>T
  • NM_000525.4:c.918C>TMANE SELECT
  • NM_001166290.2:c.657C>T
  • NM_001377296.1:c.657C>T
  • NM_001377297.1:c.657C>T
  • NP_000516.3:p.Ala306=
  • NP_001159762.1:p.Ala219=
  • NP_001364225.1:p.Ala219=
  • NP_001364226.1:p.Ala219=
  • NC_000011.9:g.17408721G>A
  • NM_000525.3:c.918C>T
Links:
dbSNP: rs377040874
NCBI 1000 Genomes Browser:
rs377040874
Molecular consequence:
  • NM_000525.4:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166290.2:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377296.1:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377297.1:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002687050Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 14, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002687050.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024