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NM_000388.4(CASR):c.60C>T (p.Tyr20=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000285281.6
Variation ID:
285281
Description:
single nucleotide variant
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NM_000388.4(CASR):c.60C>T (p.Tyr20=)

Allele ID
269518
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.1
Genomic location
3: 121973096 (GRCh37) GRCh37 UCSC
3: 122254249 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.121973096C>T
NC_000003.12:g.122254249C>T
NG_009058.1:g.75567C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:122254248:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA2569413
dbSNP: rs201564143
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 10, 2020 RCV001087642.2
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001147692.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001147691.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001147693.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001147694.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 2, 2018 RCV000315565.4
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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
1275 1293

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 08, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000338233.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 02, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143443.1
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hypocalcemia, autosomal dominant 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001308532.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Familial isolated hypoparathyroidism
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001308533.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hypocalciuric hypercalcemia, familial, type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001308534.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Neonatal severe hyperparathyroidism
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001308535.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypocalciuric hypercalcemia
Hypocalcemia, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV000638077.5
Submitted: (Jan 07, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CASR - - - -

Text-mined citations for rs201564143...

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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