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NM_000388.4(CASR):c.73C>T (p.Arg25Ter) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 11, 2021
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:
RCV004022152.1

Allele description [Variation Report for NM_000388.4(CASR):c.73C>T (p.Arg25Ter)]

NM_000388.4(CASR):c.73C>T (p.Arg25Ter)

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.73C>T (p.Arg25Ter)
HGVS:
  • NC_000003.12:g.122254262C>T
  • NG_009058.1:g.75580C>T
  • NM_000388.4:c.73C>TMANE SELECT
  • NM_001178065.2:c.73C>T
  • NP_000379.3:p.Arg25Ter
  • NP_001171536.2:p.Arg25Ter
  • NC_000003.11:g.121973109C>T
  • NM_000388.3:c.73C>T
  • p.ARG25*
Protein change:
R25*
Links:
dbSNP: rs201633414
NCBI 1000 Genomes Browser:
rs201633414
Molecular consequence:
  • NM_000388.4:c.73C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001178065.2:c.73C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002673965Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 11, 2021) 		germlineclinical testing

PubMed (3)
[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

Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.

Ward BK, Magno AL, Blitvich BJ, Rea AJ, Stuckey BG, Walsh JP, Ratajczak T.

Clin Endocrinol (Oxf). 2006 May;64(5):580-7.

PubMed [citation]
PMID:
16649980

Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.

Frank-Raue K, Leidig-Bruckner G, Haag C, Schulze E, Lorenz A, Schmitz-Winnenthal H, Raue F.

Clin Endocrinol (Oxf). 2011 Jul;75(1):50-5. doi: 10.1111/j.1365-2265.2011.04059.x.

PubMed [citation]
PMID:
21521328
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002673965.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.R25* pathogenic mutation (also known as c.73C>T), located in coding exon 1 of the CASR gene, results from a C to T substitution at nucleotide position 73. This changes the amino acid from an arginine to a stop codon within coding exon 1. This alteration has been identified in multiple families with familial hypocalciuric hypercalcemia (FHH) (Ward BK et al. Clin Endocrinol (Oxf), 2006 May;64:580-7; García-Castaño A et al. Eur J Endocrinol, 2019 Jan;180:59-70). Additionally, this alteration was identified in an individual diagnosed with hypercalcemia, hyperparathyroidism, kidney stones and hypertension (Frank-Raue K et al. Clin Endocrinol (Oxf), 2011 Jul;75:50-5). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024