NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His) AND Bartter disease type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 21, 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:: RCV003447700.1

Allele description [Variation Report for NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)]

NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)

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.241T>C (p.Tyr81His)

HGVS:

NC_000011.10:g.128840003A>G
NG_009379.1:g.32371T>C
NM_000220.6:c.298T>C
NM_153764.3:c.241T>C
NM_153765.3:c.292T>C
NM_153766.3:c.241T>CMANE SELECT
NM_153767.4:c.241T>C
NP_000211.1:p.Tyr100His
NP_722448.1:p.Tyr81His
NP_722449.3:p.Tyr98His
NP_722450.1:p.Tyr81His
NP_722451.1:p.Tyr81His
NC_000011.9:g.128709898A>G

Protein change:

Y100H

Molecular consequence:

NM_000220.6:c.298T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153764.3:c.241T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153765.3:c.292T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153766.3:c.241T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153767.4:c.241T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bartter disease type 2
Synonyms:: HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL; Hyperprostaglandin E syndrome 2; Bartter syndrome, type 2, antenatal
Identifiers:: MONDO: MONDO:0009424; MedGen: C1855849; Orphanet: 112; OMIM: 241200

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cytochrome oxidase subunit 1, partial (mitochondrion) [Megarcys sp. BIOUG20782-D...
cytochrome oxidase subunit 1, partial (mitochondrion) [Megarcys sp. BIOUG20782-D03]
gi|1503039455|gb|AYP62654.1|

Protein
Plecoptera 28S ribosomal RNA gene, partial sequence.
Plecoptera 28S ribosomal RNA gene, partial sequence.
PopSet: 157417162

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004175312	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 21, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18391953, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004175312

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 21, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP.

Nat Genet. 2008 May;40(5):592-599. doi: 10.1038/ng.118. Epub 2008 Apr 6.

PubMed [citation]

PMID:: 18391953
PMCID:: PMC3766631

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetics and Molecular Pathology, SA Pathology, SCV004175312.1

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

Description

The KCNJ1 c.241T>C variant is classified as a VARIANT of UNCERTAIN SIGNIFICANCE (PM2, PM5, PP3) The KCNJ1 c.241T>C variant is a single nucleotide change in exon 3/3 of the KCNJ1 gene, which is predicted to change the amino acid tyrosine at position 81 in the protein to histidine. This variant is absent from population databases (PM2). This variant is a novel missense change at an amino acid residue where a different missense change has been seen before (KCNJ1:c.242A>T; Tyr81Phe; PMID:18391953) (PM5). Computational predictions support a deleterious effect on the gene or gene product (PP3). This variant has not been reported in dbSNP, ClinVar or HGMD.

#	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: Dec 17, 2023

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