U.S. flag

An official website of the United States government

NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND CASR-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 23, 2023
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:
RCV004554586.1

Allele description [Variation Report for NM_000388.4(CASR):c.554G>A (p.Arg185Gln)]

NM_000388.4(CASR):c.554G>A (p.Arg185Gln)

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.554G>A (p.Arg185Gln)
HGVS:
  • NC_000003.12:g.122261589G>A
  • NG_009058.1:g.82907G>A
  • NM_000388.4:c.554G>AMANE SELECT
  • NM_001178065.2:c.554G>A
  • NP_000379.3:p.Arg185Gln
  • NP_001171536.2:p.Arg185Gln
  • NC_000003.11:g.121980436G>A
  • NM_000388.3:c.554G>A
  • NM_001178065.1:c.554G>A
Protein change:
R185Q; ARG185GLN
Links:
OMIM: 601199.0003; dbSNP: rs104893689
NCBI 1000 Genomes Browser:
rs104893689
Molecular consequence:
  • NM_000388.4:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CASR-related disorder
Synonyms:
CASR-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004118924PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 23, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004118924.1

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

Description

The CASR c.554G>A variant is predicted to result in the amino acid substitution p.Arg185Gln. This variant has been reported in many individuals to be causative for familial hypocalciuric hypercalcemia or neonatal hyperparathyroidism (Pollak et al 1993. PubMed ID: 7916660; Bai et al. 1997. PubMed ID: 9011580; Reh et al. 2011. PubMed ID: 21289269; Obermannova B et al 2008. PubMed ID: 18751724; Glaudo M et al 2016. PubMed ID: 27666534). Functional studies indicate this variant alters protein function (Zhang Z et al 2002. PubMed ID: 12114500; Bai M et al 1997. PubMed ID: 9011580). To our knowledge, this variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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

Last Updated: Sep 16, 2024