NM_000388.4(CASR):c.3223G>T (p.Val1075Leu) AND Nephrolithiasis/nephrocalcinosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 15, 2021
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:: RCV004031420.1

Allele description [Variation Report for NM_000388.4(CASR):c.3223G>T (p.Val1075Leu)]

NM_000388.4(CASR):c.3223G>T (p.Val1075Leu)

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.3223G>T (p.Val1075Leu)

HGVS:

NC_000003.12:g.122285177G>T
NG_009058.2:g.106510G>T
NM_000388.4:c.3223G>TMANE SELECT
NM_001178065.2:c.3253G>T
NP_000379.3:p.Val1075Leu
NP_001171536.2:p.Val1085Leu
NC_000003.11:g.122004024G>T
NG_009058.1:g.106495G>T
NM_000388.3:c.3223G>T

Protein change:

V1075L

Links:

dbSNP: rs748855270

NCBI 1000 Genomes Browser:

rs748855270

Molecular consequence:

NM_000388.4:c.3223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.3253G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Pandoraea sp. 2 RIFA 1481 16S ribosomal RNA gene, partial sequence
Pandoraea sp. 2 RIFA 1481 16S ribosomal RNA gene, partial sequence
gi|699059028|gb|KF624745.1|

Nucleotide
PREDICTED: glutamate receptor ionotropic, NMDA 1 isoform X8 [Rhinopithecus bieti...
PREDICTED: glutamate receptor ionotropic, NMDA 1 isoform X8 [Rhinopithecus bieti]
gi|1059184656|ref|XP_017748529.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002610247	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002610247

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 15, 2021)

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, SCV002610247.2

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

Description

The p.V1075L variant (also known as c.3223G>T), located in coding exon 6 of the CASR gene, results from a G to T substitution at nucleotide position 3223. The valine at codon 1075 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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: Nov 10, 2024

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