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NM_000388.4(CASR):c.3207del (p.Ser1069fs) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 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:
RCV004038944.1

Allele description [Variation Report for NM_000388.4(CASR):c.3207del (p.Ser1069fs)]

NM_000388.4(CASR):c.3207del (p.Ser1069fs)

Gene:
CASR:calcium sensing receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_000388.4(CASR):c.3207del (p.Ser1069fs)
HGVS:
  • NC_000003.12:g.122285161del
  • NG_009058.2:g.106494del
  • NM_000388.3:c.3207delC
  • NM_000388.4:c.3207delMANE SELECT
  • NM_001178065.2:c.3237del
  • NP_000379.3:p.Ser1069fs
  • NP_001171536.2:p.Ser1079fs
  • NC_000003.11:g.122004008del
  • NG_009058.1:g.106479del
Protein change:
S1069fs
Links:
dbSNP: rs2107652125
NCBI 1000 Genomes Browser:
rs2107652125
Molecular consequence:
  • NM_000388.4:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178065.2:c.3237del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Nephrolithiasis/nephrocalcinosis
Identifiers:
MedGen: CN580796

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005035252Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 12, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005035252.1

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

Description

The c.3207delC variant, located in coding exon 6 of the CASR gene, results from a deletion of one nucleotide at nucleotide position 3207, causing a translational frameshift with a predicted alternate stop codon (p.S1069Rfs*7). This alteration occurs at the 3' terminus of theCASR gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 10 amino acids of the protein. The exact functional effect of this alteration is unknown. 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: Sep 29, 2024