U.S. flag

An official website of the United States government

NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 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:
RCV004019782.1

Allele description [Variation Report for NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)]

NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)

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.3121C>T (p.Arg1041Trp)
HGVS:
  • NC_000003.12:g.122285075C>T
  • NG_009058.1:g.106393C>T
  • NM_000388.4:c.3121C>TMANE SELECT
  • NM_001178065.2:c.3151C>T
  • NP_000379.3:p.Arg1041Trp
  • NP_001171536.2:p.Arg1051Trp
  • NC_000003.11:g.122003922C>T
  • NM_000388.3:c.3121C>T
Protein change:
R1041W
Links:
dbSNP: rs193921082
NCBI 1000 Genomes Browser:
rs193921082
Molecular consequence:
  • NM_000388.4:c.3121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.3151C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrolithiasis/nephrocalcinosis
Identifiers:
MedGen: CN580796

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001180008Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 20, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV001180008.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R1041W variant (also known as c.3121C>T), located in coding exon 6 of the CASR gene, results from a C to T substitution at nucleotide position 3121. The arginine at codon 1041 is replaced by tryptophan, an amino acid with dissimilar 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024