NM_002241.5(KCNJ10):c.1021G>C (p.Gly341Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 11, 2014
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:: RCV000187810.1

Allele description [Variation Report for NM_002241.5(KCNJ10):c.1021G>C (p.Gly341Arg)]

NM_002241.5(KCNJ10):c.1021G>C (p.Gly341Arg)

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.1021G>C (p.Gly341Arg)

Other names:

p.G341R:GGC>CGC

HGVS:

NC_000001.11:g.160041512C>G
NG_016411.1:g.33660G>C
NM_002241.5:c.1021G>CMANE SELECT
NP_002232.2:p.Gly341Arg
NC_000001.10:g.160011302C>G
NM_002241.4:c.1021G>C

Protein change:

G341R

Links:

dbSNP: rs796052605

NCBI 1000 Genomes Browser:

rs796052605

Molecular consequence:

NM_002241.5:c.1021G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000241408	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 11, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000241408

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 11, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000241408.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

p.Gly341Arg (GGC>CGC): c.1021 G>C in exon 2 of the KCNJ10 gene (NM_002241.4). The Gly341Arg missense change in the KCNJ10 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a non-polar Glycine residue with a polar Arginine residue at a position that is conserved in mammals but is not conserved in more distantly related species. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Gly341Arg is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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