NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala) AND not provided

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Jan 31, 2024
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:: RCV000224679.12

Allele description [Variation Report for NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala)]

NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala)

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.199A>G (p.Thr67Ala)

HGVS:

NC_000011.10:g.128840045T>C
NG_009379.1:g.32329A>G
NM_000220.6:c.256A>G
NM_153764.3:c.199A>G
NM_153765.3:c.250A>G
NM_153766.3:c.199A>GMANE SELECT
NM_153767.4:c.199A>G
NP_000211.1:p.Thr86Ala
NP_722448.1:p.Thr67Ala
NP_722449.3:p.Thr84Ala
NP_722450.1:p.Thr67Ala
NP_722451.1:p.Thr67Ala
NC_000011.9:g.128709940T>C
NM_000220.4:c.256A>G

Protein change:

T67A

Links:

dbSNP: rs41302407

NCBI 1000 Genomes Browser:

rs41302407

Molecular consequence:

NM_000220.6:c.256A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153764.3:c.199A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153765.3:c.250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153766.3:c.199A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153767.4:c.199A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000280669	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jan 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000842503	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Feb 28, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16982955, 26467025
SCV001730548	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001757597	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 14, 2020)	germline	clinical testing	Citation Link,
SCV005211306	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

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, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Extensive genetic analysis of 10 candidate genes for hypertension in Japanese.

Iwai N, Kajimoto K, Kokubo Y, Tomoike H.

Hypertension. 2006 Nov;48(5):901-7. Epub 2006 Sep 18.

PubMed [citation]

PMID:: 16982955

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

See all PubMed Citations (4)

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000280669.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.010987	not provided	not provided

From Athena Diagnostics, SCV000842503.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001730548.4

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

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

From GeneDx, SCV001757597.1

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

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005211306.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	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: Oct 13, 2024

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