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NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 30, 2019
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:
RCV001289357.4

Allele description [Variation Report for NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)]

NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)

Gene:
CASR:calcium sensing receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)
HGVS:
  • NC_000003.12:g.122284197C>G
  • NG_009058.2:g.105530C>G
  • NM_000388.4:c.2243C>GMANE SELECT
  • NM_001178065.2:c.2273C>G
  • NP_000379.3:p.Pro748Arg
  • NP_001171536.2:p.Pro758Arg
  • NC_000003.11:g.122003044C>G
  • NG_009058.1:g.105515C>G
  • NM_000388.2:c.2243C>G
  • NM_000388.3:c.2243C>G
Protein change:
P748R
Links:
dbSNP: rs193922433
NCBI 1000 Genomes Browser:
rs193922433
Molecular consequence:
  • NM_000388.4:c.2243C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2273C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001477108Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Likely pathogenic
(Dec 30, 2019) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

Heath H 3rd, Odelberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NR, Krapcho KJ, Hung BC, Capuano IV, Garrett JE, Leppert MF.

J Clin Endocrinol Metab. 1996 Apr;81(4):1312-7.

PubMed [citation]
PMID:
8636323

Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications.

Eldeiry LS, Ruan DT, Brown EM, Gaglia JL, Garber JR.

Endocr Pract. 2012 May-Jun;18(3):412-7. doi: 10.4158/EP11272.RA. Review.

PubMed [citation]
PMID:
22232026
See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV001477108.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024