NM_000388.4(CASR):c.73C>T (p.Arg25Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Dec 14, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000413560.2

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490452GeneDxcriteria provided, single submitter
Pathogenic
(May 4, 2016)
germlineclinical testing

Citation Link,

SCV000612679Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Dec 14, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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 GeneDx, SCV000490452.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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; Ward et al., 2006). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, the R25X variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. In summary, we interpret R25X as a pathogenic variant.

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

From Athena Diagnostics Inc, SCV000612679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 10, 2021

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