CASR p.Arg185Arg
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is . The variant received 2 ACMG points: 2P and 0B. PM2
Uncertain significance
The NM_000388.4(CASR):c. variant causes a intron change. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 32)
Consequence
CASR
NM_000388.4 intron
NM_000388.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 6.00
Publications
0 publications found
Genes affected
CASR (HGNC:1514): (calcium sensing receptor) The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
CASR Gene-Disease associations (from GenCC):
- autosomal dominant hypocalcemia 1Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), ClinGen, Illumina
- familial hypocalciuric hypercalcemia 1Inheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Illumina, Orphanet, Genomics England PanelApp, Labcorp Genetics (formerly Invitae), ClinGen
- neonatal severe primary hyperparathyroidismInheritance: AR, AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, ClinGen, Labcorp Genetics (formerly Invitae)
- autosomal dominant hypocalcemiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- epilepsy, idiopathic generalized, susceptibility to, 8Inheritance: AD Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae)
- epilepsyInheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
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new If you want to explore the variant's impact on the transcript NM_000388.4, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_000388.4. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| CASR | TSL:1 MANE Select | c. | splice_donor intron | N/A | ENSP00000491584.2 | P41180-1 | |||
| CASR | TSL:1 | c. | splice_donor intron | N/A | ENSP00000420194.1 | P41180-2 | |||
| CASR | TSL:5 | c. | splice_donor intron | N/A | ENSP00000492190.1 | P41180-1 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Cov.: 33
GnomAD4 exome
Cov.:
33
GnomAD4 genome
GnomAD4 genome
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.
Publications
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