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NM_153766.3(KCNJ1):c.163G>T (p.Asp55Tyr) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 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:
RCV003557695.1

Allele description [Variation Report for NM_153766.3(KCNJ1):c.163G>T (p.Asp55Tyr)]

NM_153766.3(KCNJ1):c.163G>T (p.Asp55Tyr)

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.163G>T (p.Asp55Tyr)
HGVS:
  • NC_000011.10:g.128840081C>A
  • NG_009379.1:g.32293G>T
  • NM_000220.6:c.220G>T
  • NM_153764.3:c.163G>T
  • NM_153765.3:c.214G>T
  • NM_153766.3:c.163G>TMANE SELECT
  • NM_153767.4:c.163G>T
  • NP_000211.1:p.Asp74Tyr
  • NP_722448.1:p.Asp55Tyr
  • NP_722449.3:p.Asp72Tyr
  • NP_722450.1:p.Asp55Tyr
  • NP_722451.1:p.Asp55Tyr
  • NC_000011.9:g.128709976C>A
Protein change:
D55Y
Molecular consequence:
  • NM_000220.6:c.220G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153764.3:c.163G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153765.3:c.214G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153766.3:c.163G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153767.4:c.163G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004295815Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 29, 2024) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.

[No authors listed]

Hum Mol Genet. 1997 Jan;6(1):17-26. Erratum in: Hum Mol Genet 1997 Apr;6(4):650.

PubMed [citation]
PMID:
9002665

Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.

Konrad M, Leonhardt A, Hensen P, Seyberth HW, Köckerling A.

Pediatrics. 1999 Mar;103(3):678-83.

PubMed [citation]
PMID:
10049979
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV004295815.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 74 of the KCNJ1 protein (p.Asp74Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Bartter syndrome (PMID: 9002665, 10049979). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects KCNJ1 function (PMID: 10611379, 12086641, 12911542). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 20, 2024