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

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 3, 2020
Accession:
VCV000372315.5
Variation ID:
372315
Description:
single nucleotide variant
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NM_000388.4(CASR):c.73C>T (p.Arg25Ter)

Allele ID
359376
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.1
Genomic location
3: 122254262 (GRCh38) GRCh38 UCSC
3: 121973109 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.122254262C>T
NC_000003.11:g.121973109C>T
NM_000388.4:c.73C>T MANE Select NP_000379.3:p.Arg25Ter nonsense
... more HGVS
Protein change
R25*
Other names
-
Canonical SPDI
NC_000003.12:122254261:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA2569414
dbSNP: rs201633414
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 14, 2016 RCV000413560.2
Pathogenic 1 criteria provided, single submitter Aug 3, 2020 RCV000457695.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CASR No evidence available No evidence available GRCh38
GRCh37
1264 1282

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 14, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612679.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (2)
Pathogenic
(May 04, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490452.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R25X nonsense variant in the CASR gene has been reported previously in patients with primary hyperparathyroidism and familial hypocacliuric hypercalcemia (Frank-Raue et al, 2011; … (more)
Pathogenic
(Aug 03, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypocalciuric hypercalcemia
Hypocalcemia, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV000550973.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Arg25*) in the CASR gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hannan FM Human molecular genetics 2012 PMID: 22422767
Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism. Frank-Raue K Clinical endocrinology 2011 PMID: 21521328
Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia. Ward BK Clinical endocrinology 2006 PMID: 16649980

Text-mined citations for rs201633414...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 10, 2021