NM_000388.4(CASR):c.350A>G (p.Gln117Arg) AND Nephrolithiasis/nephrocalcinosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 11, 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:: RCV003360711.2

Allele description [Variation Report for NM_000388.4(CASR):c.350A>G (p.Gln117Arg)]

NM_000388.4(CASR):c.350A>G (p.Gln117Arg)

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.350A>G (p.Gln117Arg)

HGVS:

NC_000003.12:g.122257245A>G
NG_009058.2:g.78578A>G
NM_000388.4:c.350A>GMANE SELECT
NM_001178065.2:c.350A>G
NP_000379.3:p.Gln117Arg
NP_001171536.2:p.Gln117Arg
NC_000003.11:g.121976092A>G
NM_000388.3:c.350A>G

Protein change:

Q117R

Molecular consequence:

NM_000388.4:c.350A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.350A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Nephrolithiasis/nephrocalcinosis
Identifiers:: MedGen: CN580796

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004053820	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004053820

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 11, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Wang Y, Nie M, Wang O, Li Y, Jiang Y, Li M, Xia W, Xing X.

J Bone Miner Res. 2019 Dec;34(12):2254-2263. doi: 10.1002/jbmr.3854. Epub 2019 Nov 13.

PubMed [citation]

PMID:: 31433868

Details of each submission

From Ambry Genetics, SCV004053820.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.350A>G (p.Q117R) alteration is located in exon 3 (coding exon 2) of the CASR gene. This alteration results from a A to G substitution at nucleotide position 350, causing the glutamine (Q) at amino acid position 117 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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