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NM_000388.4(CASR):c.393C>G (p.Cys131Trp) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 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:
RCV004018598.1

Allele description [Variation Report for NM_000388.4(CASR):c.393C>G (p.Cys131Trp)]

NM_000388.4(CASR):c.393C>G (p.Cys131Trp)

Gene:
CASR:calcium sensing receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_000388.4(CASR):c.393C>G (p.Cys131Trp)
Other names:
C141W
HGVS:
  • NC_000003.12:g.122257288C>G
  • NG_009058.1:g.78606C>G
  • NM_000388.3:c.393C>G
  • NM_000388.4:c.393C>GMANE SELECT
  • NM_001178065.2:c.393C>G
  • NP_000379.3:p.Cys131Trp
  • NP_001171536.2:p.Cys131Trp
  • NC_000003.11:g.121976135C>G
Protein change:
C131W; CYS141TRP
Links:
OMIM: 601199.0035; dbSNP: rs121909267
NCBI 1000 Genomes Browser:
rs121909267
Molecular consequence:
  • NM_000388.4:c.393C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.393C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrolithiasis/nephrocalcinosis
Identifiers:
MedGen: CN580796

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004920308Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 2, 2024) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.

Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T.

Lancet. 2002 Aug 31;360(9334):692-4.

PubMed [citation]
PMID:
12241879

Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.

Kinoshita Y, Hori M, Taguchi M, Watanabe S, Fukumoto S.

J Clin Endocrinol Metab. 2014 Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430. Epub 2013 Dec 2.

PubMed [citation]
PMID:
24297799
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV004920308.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The c.393C>G (p.C131W) alteration is located in exon 3 (coding exon 2) of the CASR gene. This alteration results from a C to G substitution at nucleotide position 393, causing the cysteine (C) at amino acid position 131 to be replaced by a tryptophan (W). In vitro functional studies showed that this variant increased sensitivity to extracellular calcium (Dong, 2015; Letz, 2014; Kinoshita, 2014). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024