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NM_000388.4(CASR):c.2064C>T (p.Phe688=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000237762.7
Variation ID:
237762
Description:
single nucleotide variant
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NM_000388.4(CASR):c.2064C>T (p.Phe688=)

Allele ID
239071
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.1
Genomic location
3: 122284018 (GRCh38) GRCh38 UCSC
3: 122002865 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.122002865C>T
NC_000003.12:g.122284018C>T
NG_009058.1:g.105336C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:122284017:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00013
The Genome Aggregation Database (gnomAD) 0.00032
Exome Aggregation Consortium (ExAC) 0.00014
Trans-Omics for Precision Medicine (TOPMed) 0.00044
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
Links
ClinGen: CA2569778
dbSNP: rs150869744
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000302845.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000347538.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000359832.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000395248.2
Likely benign 1 criteria provided, single submitter Nov 16, 2018 RCV001014217.1
Likely benign 1 criteria provided, single submitter Dec 7, 2020 RCV001080668.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 30, 2017 RCV000711032.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CASR No evidence available No evidence available GRCh38
GRCh37
1264 1282

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 11, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336912.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hypocalcemia, autosomal dominant 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000440119.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Familial isolated hypoparathyroidism
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000440122.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hypocalciuric hypercalcemia, familial, type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000440121.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Neonatal severe hyperparathyroidism
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000440120.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypocalciuric hypercalcemia
Hypocalcemia, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV000284787.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Dec 30, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841352.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Likely benign
(Nov 16, 2018)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV001174901.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identification of rare and frequent variants of the CASR gene by high-resolution melting. Nissen PH Clinica chimica acta; international journal of clinical chemistry 2012 PMID: 22192860
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CASR - - - -

Text-mined citations for rs150869744...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 06, 2021