ClinVar Genomic variation as it relates to human health
NM_000388.4(CASR):c.492+19G>A
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000388.4(CASR):c.492+19G>A
Variation ID: 35799 Accession: VCV000035799.21
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 3q21.1 3: 122257406 (GRCh38) [ NCBI UCSC ] 3: 121976253 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Sep 29, 2024 Feb 1, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000388.4:c.492+19G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_001178065.2:c.492+19G>A intron variant NC_000003.12:g.122257406G>A NC_000003.11:g.121976253G>A NG_009058.1:g.78724G>A - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000003.12:122257405:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.07808 (G)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.91235
The Genome Aggregation Database (gnomAD) 0.91296
Trans-Omics for Precision Medicine (TOPMed) 0.91817
1000 Genomes Project 0.92192
1000 Genomes Project 30x 0.92239
Exome Aggregation Consortium (ExAC) 0.94371
The Genome Aggregation Database (gnomAD), exomes 0.94921
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2727 | 2750 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Benign (1) |
criteria provided, single submitter
|
Aug 18, 2011 | RCV000029451.3 | |
Benign (6) |
criteria provided, multiple submitters, no conflicts
|
Dec 13, 2017 | RCV000078686.20 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
Jul 13, 2017 | RCV000710098.5 | |
Benign (1) |
criteria provided, single submitter
|
Feb 1, 2024 | RCV001519670.8 | |
Benign (1) |
criteria provided, single submitter
|
Jul 14, 2021 | RCV001554696.3 | |
Benign (1) |
criteria provided, single submitter
|
Jul 14, 2021 | RCV001554694.3 | |
Benign (1) |
criteria provided, single submitter
|
Jul 14, 2021 | RCV001554695.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000306966.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
Benign
(Dec 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000714029.1
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
Benign
(Jul 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Athena Diagnostics
Accession: SCV000612672.2
First in ClinVar: Oct 02, 2016 Last updated: Oct 19, 2018 |
|
|
Benign
(Aug 22, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000110546.8
First in ClinVar: Jan 17, 2014 Last updated: Oct 19, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
benign
(Aug 18, 2011)
|
criteria provided, single submitter
Method: curation, clinical testing
|
Familial Hypocalciuric Hypercalcemia
(autosomal unknown)
Affected status: yes, unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052101.2
First in ClinVar: Apr 04, 2013 Last updated: Apr 07, 2022 |
Comment:
Converted during submission to Benign.
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Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001728569.4
First in ClinVar: Jun 15, 2021 Last updated: Feb 28, 2024 |
|
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Benign
(-)
|
criteria provided, single submitter
Method: not provided
|
not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005303510.1
First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024 |
|
|
Benign
(Jul 14, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal dominant hypocalcemia 1
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001775980.1
First in ClinVar: Aug 13, 2021 Last updated: Aug 13, 2021 |
Sex: mixed
|
|
Benign
(Jul 14, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial hypocalciuric hypercalcemia 1
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001775981.1
First in ClinVar: Aug 13, 2021 Last updated: Aug 13, 2021 |
Sex: mixed
|
|
Benign
(Jul 14, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Neonatal severe primary hyperparathyroidism
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001775979.1
First in ClinVar: Aug 13, 2021 Last updated: Aug 13, 2021 |
Sex: mixed
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001931694.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951336.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001744370.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics. | Yun FH | Clinical biochemistry | 2007 | PMID: 17320849 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CASR | - | - | - | - |
Text-mined citations for rs9869985 ...
HelpRecord last updated Nov 10, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.