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NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 2022
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:
RCV004245048.1

Allele description [Variation Report for NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)]

NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)

Gene:
CASR:calcium sensing receptor [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)
HGVS:
  • NC_000003.12:g.122284746AGC[3]
  • NG_009058.2:g.106079AGC[3]
  • NM_000388.4:c.2792AGC[3]MANE SELECT
  • NM_001178065.2:c.2822AGC[3]
  • NP_000379.3:p.Gln934del
  • NP_001171536.2:p.Gln944del
  • NC_000003.11:g.122003593AGC[3]
  • NC_000003.11:g.122003593_122003595del
  • NM_000388.3:c.2801_2803delAGC
Protein change:
Q934del
Molecular consequence:
  • NM_000388.4:c.2792AGC[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001178065.2:c.2822AGC[3] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Nephrolithiasis/nephrocalcinosis
Identifiers:
MedGen: CN580796

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003855422Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 17, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003855422.2

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

Description

The c.2801_2803delAGC variant (also known as p.Q934del) is located in coding exon 6 of the CASR gene. This variant results from an in-frame AGC deletion at nucleotide positions 2801 to 2803. This results in the in-frame deletion of a glutamine at codon 934. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024