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NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 25, 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:
RCV002515597.2

Allele description [Variation Report for NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)]

NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)

Gene:
KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
HGVS:
  • NC_000011.10:g.128839739G>A
  • NG_009379.1:g.32635C>T
  • NM_000220.6:c.562C>T
  • NM_153764.3:c.505C>T
  • NM_153765.3:c.556C>T
  • NM_153766.3:c.505C>TMANE SELECT
  • NM_153767.4:c.505C>T
  • NP_000211.1:p.Arg188Cys
  • NP_722448.1:p.Arg169Cys
  • NP_722449.3:p.Arg186Cys
  • NP_722450.1:p.Arg169Cys
  • NP_722451.1:p.Arg169Cys
  • NC_000011.9:g.128709634G>A
  • NM_000220.2:c.562C>T
  • NM_000220.4:c.562C>T
Protein change:
R169C
Links:
dbSNP: rs138120505
NCBI 1000 Genomes Browser:
rs138120505
Molecular consequence:
  • NM_000220.6:c.562C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153764.3:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153765.3:c.556C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153766.3:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153767.4:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003712784Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 25, 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, SCV003712784.2

#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: Sep 29, 2024