NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) AND Nephrolithiasis/nephrocalcinosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 27, 2024
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:: RCV004031894.2

Allele description [Variation Report for NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)]

NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)

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.2213T>C (p.Ile738Thr)

HGVS:

NC_000003.12:g.122284167T>C
NG_009058.2:g.105500T>C
NM_000388.4:c.2213T>CMANE SELECT
NM_001178065.2:c.2243T>C
NP_000379.3:p.Ile738Thr
NP_001171536.2:p.Ile748Thr
NC_000003.11:g.122003014T>C
NG_009058.1:g.105485T>C
NM_000388.3:c.2213T>C

Protein change:

I738T

Links:

dbSNP: rs759337909

NCBI 1000 Genomes Browser:

rs759337909

Molecular consequence:

NM_000388.4:c.2213T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.2243T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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PREDICTED: Mus musculus ubiquitin associated and SH3 domain containing, B (Ubash...
PREDICTED: Mus musculus ubiquitin associated and SH3 domain containing, B (Ubash3b), transcript variant X3, mRNA
gi|1720432873|ref|XM_030244638.1|

Nucleotide
Protein (UniProtKB) for Protein (Select 446046995) (41)
Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002728772	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 27, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002728772

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 27, 2024)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002728772.3

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

Description

The p.I738T variant (also known as c.2213T>C), located in coding exon 6 of the CASR gene, results from a T to C substitution at nucleotide position 2213. The isoleucine at codon 738 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. In addition, the evidence for the gene-disease relationship is limited for pancreatitis and cancer predisposition; therefore, the clinical significance of this variant for CASR-related pancreatitis and cancer predisposition is unclear. Based on the available 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: Oct 26, 2024

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