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NM_002241.5(KCNJ10):c.238T>G (p.Phe80Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2024
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:
RCV002275297.3

Allele description [Variation Report for NM_002241.5(KCNJ10):c.238T>G (p.Phe80Val)]

NM_002241.5(KCNJ10):c.238T>G (p.Phe80Val)

Gene:
KCNJ10:potassium inwardly rectifying channel subfamily J member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.2
Genomic location:
Preferred name:
NM_002241.5(KCNJ10):c.238T>G (p.Phe80Val)
HGVS:
  • NC_000001.11:g.160042295A>C
  • NG_016411.1:g.32877T>G
  • NM_002241.5:c.238T>GMANE SELECT
  • NP_002232.2:p.Phe80Val
  • NC_000001.10:g.160012085A>C
  • NM_002241.4:c.238T>G
Protein change:
F80V
Links:
dbSNP: rs377638115
NCBI 1000 Genomes Browser:
rs377638115
Molecular consequence:
  • NM_002241.5:c.238T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002562446GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 8, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002562446.3

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 8, 2024