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NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 3, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001328171.1

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)]

NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)

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.1314C>G (p.Tyr438Ter)
HGVS:
  • NC_000016.10:g.56879206C>G
  • NG_009386.2:g.19000C>G
  • NM_000339.3:c.1314C>G
  • NM_001126107.2:c.1311C>G
  • NM_001126108.2:c.1314C>GMANE SELECT
  • NP_000330.3:p.Tyr438Ter
  • NP_001119579.2:p.Tyr437Ter
  • NP_001119580.2:p.Tyr438Ter
  • NC_000016.9:g.56913118C>G
  • NG_009386.1:g.19000C>G
  • NM_000339.2:c.1314C>G
Protein change:
Y437*
Links:
dbSNP: rs776210036
NCBI 1000 Genomes Browser:
rs776210036
Molecular consequence:
  • NM_000339.3:c.1314C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126107.2:c.1311C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126108.2:c.1314C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
Name:
Bartter syndrome
Synonyms:
Bartter's syndrome; Potassium wasting
Identifiers:
MONDO: MONDO:0015231; MedGen: C0004775; OMIM: PS601678

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449430Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(May 3, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449430.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for the c.1314C>G variant in the SLC12A3 gene. This variant creates a premature stop codon (p.Tyr438*) and may result in a null allele due to nonsense-mediated mRNA decay. To our knowledge, this variant has not been previously reported to be a disease causing variant and it has not been reported in the ExAC allele frequency database (http://exac.broadinstitute.org). According to ACMG guidelines, this variant is considered to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024