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NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 18, 2018
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:
RCV004021879.1

Allele description [Variation Report for NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)]

NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)

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.2824G>A (p.Glu942Lys)
HGVS:
  • NC_000003.12:g.122284778G>A
  • NG_009058.1:g.106096G>A
  • NM_000388.4:c.2824G>AMANE SELECT
  • NM_001178065.2:c.2854G>A
  • NP_000379.3:p.Glu942Lys
  • NP_001171536.2:p.Glu952Lys
  • NC_000003.11:g.122003625G>A
  • NM_000388.3:c.2824G>A
Protein change:
E942K
Links:
dbSNP: rs76327999
NCBI 1000 Genomes Browser:
rs76327999
Molecular consequence:
  • NM_000388.4:c.2824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2854G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001177684Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Oct 18, 2018) 		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, SCV001177684.4

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

Description

This alteration is classified as 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