NM_000388.4(CASR):c.1441G>A (p.Glu481Lys) AND Nephrolithiasis/nephrocalcinosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 16, 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:: RCV004429989.1

Allele description [Variation Report for NM_000388.4(CASR):c.1441G>A (p.Glu481Lys)]

NM_000388.4(CASR):c.1441G>A (p.Glu481Lys)

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.1441G>A (p.Glu481Lys)

HGVS:

NC_000003.12:g.122275875G>A
NG_009058.2:g.97208G>A
NM_000388.4:c.1441G>AMANE SELECT
NM_001178065.2:c.1441G>A
NP_000379.3:p.Glu481Lys
NP_001171536.2:p.Glu481Lys
NC_000003.11:g.121994722G>A
NM_000388.3:c.1441G>A

Protein change:

E481K

Molecular consequence:

NM_000388.4:c.1441G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.1441G>A - 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
SCV004920302	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 16, 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

SCV004920302

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 16, 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

Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.

Kinoshita Y, Hori M, Taguchi M, Watanabe S, Fukumoto S.

J Clin Endocrinol Metab. 2014 Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430. Epub 2013 Dec 2.

PubMed [citation]

PMID:: 24297799

Details of each submission

From Ambry Genetics, SCV004920302.1

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

Description

The c.1441G>A (p.E481K) alteration is located in exon 5 (coding exon 4) of the CASR gene. This alteration results from a G to A substitution at nucleotide position 1441, causing the glutamic acid (E) at amino acid position 481 to be replaced by a lysine (K). 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 7, 2024

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