NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) AND not provided

Clinical significance:Likely benign (Last evaluated: Jun 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000054620.2

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_001178065.2: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)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000077310Martin Pollak Laboratory, Beth Israel Deaconess Medical Centerno assertion criteria providedunknownnot providednot provided

SCV001477109Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Jun 29, 2020)
unknownclinical testing

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

Description

Lower UCa2+ group

SCV000077310

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedunknownunknownnot 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
See all PubMed Citations (4)

Details of each submission

From Martin Pollak Laboratory, Beth Israel Deaconess Medical Center, SCV000077310.1

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

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001477109.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

Support Center