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

Clinical significance:Pathogenic (Last evaluated: Aug 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000457695.5

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:
Familial hypocalciuric hypercalcemia (FHH)
Synonyms:
Familial benign hypercalcemia
Identifiers:
MONDO: MONDO:0018458; MedGen: C1809471; OMIM: PS145980
Name:
Hypocalcemia, autosomal dominant 1 (HYPOC1)
Synonyms:
HYPERCALCIURIC HYPOCALCEMIA; HYPOCALCEMIA, FAMILIAL
Identifiers:
MONDO: MONDO:0011013; MedGen: C0342345; OMIM: 601198

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000550973Invitaecriteria provided, single submitter
Pathogenic
(Aug 3, 2020)
germlineclinical testing

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

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 (4)

Details of each submission

From Invitae, SCV000550973.5

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

Description

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 product. This variant is present in population databases (rs201633414, ExAC 0.01%). This variant has been observed in a family affected with familial hypocalciuric hypercalcaemia (FHH) (PMID: 16649980), and an individual affected with primary hyperparathyroidism (HPT) (PMID: 21521328). ClinVar contains an entry for this variant (Variation ID: 372315). Loss-of-function variants in CASR are known to be pathogenic (PMID: 22422767). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 10, 2021

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