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NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) AND Familial hypokalemia-hypomagnesemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 27, 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:
RCV002245162.3

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)]

NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)

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.160C>T (p.Arg54Cys)
HGVS:
  • NC_000016.10:g.56865395C>T
  • NG_009386.2:g.5189C>T
  • NM_000339.3:c.160C>T
  • NM_001126107.2:c.160C>T
  • NM_001126108.2:c.160C>TMANE SELECT
  • NP_000330.3:p.Arg54Cys
  • NP_001119579.2:p.Arg54Cys
  • NP_001119580.2:p.Arg54Cys
  • NC_000016.9:g.56899307C>T
  • NM_000339.2:c.160C>T
Protein change:
R54C
Links:
dbSNP: rs774753302
NCBI 1000 Genomes Browser:
rs774753302
Molecular consequence:
  • NM_000339.3:c.160C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126107.2:c.160C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126108.2:c.160C>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002513812European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 27, 2022) 		germlineclinical 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

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, SCV002513812.1

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

Description

ACMG criteria used:PM1, PM2, PP3, PP5, PM3

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

Last Updated: Jun 23, 2024