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NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) AND Familial hypocalciuric hypercalcemia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000664400.1

Allele description [Variation Report for NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)]

NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)

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.2657G>C (p.Arg886Pro)
HGVS:
  • NC_000003.12:g.122284611G>C
  • NG_009058.1:g.105929G>C
  • NM_000388.4:c.2657G>CMANE SELECT
  • NM_001178065.2:c.2687G>C
  • NP_000379.3:p.Arg886Pro
  • NP_001171536.2:p.Arg896Pro
  • NC_000003.11:g.122003458G>C
  • NM_000388.3:c.2657G>C
Protein change:
R886P; ARG886PRO
Links:
LOVD 3: CASR_00066; OMIM: 601199.0054; dbSNP: rs1057520791
NCBI 1000 Genomes Browser:
rs1057520791
Molecular consequence:
  • NM_000388.4:c.2657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2687G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypocalciuric hypercalcemia 1
Synonyms:
Hypercalcemia, familial benign type 1
Identifiers:
MONDO: MONDO:0007791; MedGen: C0342637; Orphanet: 405; Orphanet: 93372; OMIM: 145980

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000788330OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2002) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ.

Medicine (Baltimore). 2002 Jan;81(1):1-26. Review. No abstract available.

PubMed [citation]
PMID:
11807402

Details of each submission

From OMIM, SCV000788330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family (kindred 5780) with hypercalcemia, in which the proband and 1 affected son were hypercalciuric whereas a second affected son and 4 hypercalcemic grandchildren were hypocalciuric (HHC1; 145980), Simonds et al. (2002) identified heterozygosity for an arg866-to-pro (R866P) substitution in the CASR gene that was not found in 3 unaffected family members. The authors noted that findings typical of HHC in this family included hypercalcemia before 10 years of age, relative hypocalciuria, hypermagnesemia, and persistent postoperative hyperparathyroidism in the 2 patients who underwent subtotal parathyroidectomy. However, features atypical of HHC were also observed, including hypercalciuria in 2 affected family members as well as an intact PTH level of 179 pg/mL in the proband, more than 2 times above the value reported to discriminate between HHC and forms of hyperparathyroidism.

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

Last Updated: Sep 29, 2024