NM_000388.4(CASR):c.2261A>C (p.Gln754Pro) AND Nephrolithiasis/nephrocalcinosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 27, 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:: RCV004023950.1

Allele description [Variation Report for NM_000388.4(CASR):c.2261A>C (p.Gln754Pro)]

NM_000388.4(CASR):c.2261A>C (p.Gln754Pro)

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.2261A>C (p.Gln754Pro)

HGVS:

NC_000003.12:g.122284215A>C
NG_009058.1:g.105533A>C
NM_000388.4:c.2261A>CMANE SELECT
NM_001178065.2:c.2291A>C
NP_000379.3:p.Gln754Pro
NP_001171536.2:p.Gln764Pro
NC_000003.11:g.122003062A>C
NM_000388.3:c.2261A>C

Protein change:

Q754P

Links:

dbSNP: rs777361297

NCBI 1000 Genomes Browser:

rs777361297

Molecular consequence:

NM_000388.4:c.2261A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.2291A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Mus musculus zinc finger protein 865 (Zfp865), transcript variant 2, mRNA
Mus musculus zinc finger protein 865 (Zfp865), transcript variant 2, mRNA
gi|594190881|ref|NM_001290426.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002736564	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002736564

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 27, 2022)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV002736564.2

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

Description

The p.Q754P variant (also known as c.2261A>C), located in coding exon 6 of the CASR gene, results from an A to C substitution at nucleotide position 2261. The glutamine at codon 754 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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: Oct 26, 2024

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