U.S. flag

An official website of the United States government

NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) AND Familial hypokalemia-hypomagnesemia

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 27, 2022
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:
RCV002245176.4

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp)]

NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp)

Gene:
SLC12A3:solute carrier family 12 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp)
HGVS:
  • NC_000016.10:g.56870221C>T
  • NG_009386.2:g.10015C>T
  • NM_000339.3:c.727C>T
  • NM_001126107.2:c.724C>T
  • NM_001126108.2:c.727C>TMANE SELECT
  • NP_000330.3:p.Arg243Trp
  • NP_001119579.2:p.Arg242Trp
  • NP_001119580.2:p.Arg243Trp
  • NC_000016.9:g.56904133C>T
  • NM_000339.2:c.727C>T
Protein change:
R242W
Links:
dbSNP: rs772187470
NCBI 1000 Genomes Browser:
rs772187470
Molecular consequence:
  • NM_000339.3:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126107.2:c.724C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126108.2:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypokalemia-hypomagnesemia (GTLMNS)
Synonyms:
Potassium and magnesium depletion; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
Identifiers:
MONDO: MONDO:0009904; MedGen: C0268450; Orphanet: 358; OMIM: 263800

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002513853European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 27, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002796931Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 6, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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 European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP, SCV002513853.1

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

Description

ACMG criteria used:PM1, PM2,

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

From Fulgent Genetics, Fulgent Genetics, SCV002796931.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024