NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) AND Familial hypokalemia-hypomagnesemia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 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:: RCV002504952.1

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met)]

NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met)

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.1189G>A (p.Val397Met)

HGVS:

NC_000016.10:g.56879081G>A
NG_009386.1:g.18875G>A
NM_000339.3:c.1189G>A
NM_001126107.2:c.1186G>A
NM_001126108.2:c.1189G>AMANE SELECT
NP_000330.3:p.Val397Met
NP_001119579.2:p.Val396Met
NP_001119580.2:p.Val397Met
NC_000016.9:g.56912993G>A
NM_000339.2:c.1189G>A

Protein change:

V396M

Links:

dbSNP: rs387907472

NCBI 1000 Genomes Browser:

rs387907472

Molecular consequence:

NM_000339.3:c.1189G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126107.2:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126108.2:c.1189G>A - 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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1574085[uid] (1)
Taxonomy
alpha-lactalbumin precursor [Rattus norvegicus]
alpha-lactalbumin precursor [Rattus norvegicus]
gi|6981140|ref|NP_036726.1|

Protein
LRG_4t1 (0)
Nucleotide
Enoyl-CoA Hydratase 2
Enoyl-CoA Hydratase 2
A PEROXISOME-specific enzyme that catalyzes the hydration step of the beta-oxidation pathway.<br/>Year introduced: 2014

MeSH
Carbonic Anhydrases
Carbonic Anhydrases
A family of zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide. They play an important role in the transport of CARBON DIOXIDE from the tissues t...<br/>Year introduced: 2002(1963)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002814489	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 7, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002814489

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 7, 2022)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002814489.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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