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NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 16, 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:
RCV004018974.1

Allele description [Variation Report for NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)]

NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)

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.2777A>G (p.Gln926Arg)
HGVS:
  • NC_000003.12:g.122284731A>G
  • NG_009058.1:g.106049A>G
  • NM_000388.4:c.2777A>GMANE SELECT
  • NM_001178065.1:c.2807A>G
  • NM_001178065.2:c.2807A>G
  • NP_000379.3:p.Gln926Arg
  • NP_001171536.2:p.Gln936Arg
  • NC_000003.11:g.122003578A>G
  • NM_000388.2:c.2777A>G
  • NM_000388.3:c.2777A>G
Protein change:
Q926R
Links:
dbSNP: rs200263975
NCBI 1000 Genomes Browser:
rs200263975
Molecular consequence:
  • NM_000388.4:c.2777A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2807A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001177524Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 16, 2023) 		germlineclinical testing

PubMed (2)
[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 inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.

Rus R, Haag C, Bumke-Vogt C, Bähr V, Mayr B, Möhlig M, Schulze E, Frank-Raue K, Raue F, Schöfl C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4797-803. doi: 10.1210/jc.2008-1076. Epub 2008 Sep 16.

PubMed [citation]
PMID:
18796518

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

Details of each submission

From Ambry Genetics, SCV001177524.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024