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NM_000388.4(CASR):c.141A>C (p.Lys47Asn) AND Autosomal dominant hypocalcemia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1999
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:
RCV000008839.5

Allele description [Variation Report for NM_000388.4(CASR):c.141A>C (p.Lys47Asn)]

NM_000388.4(CASR):c.141A>C (p.Lys47Asn)

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.141A>C (p.Lys47Asn)
HGVS:
  • NC_000003.12:g.122254330A>C
  • NG_009058.1:g.75648A>C
  • NM_000388.4:c.141A>CMANE SELECT
  • NM_001178065.2:c.141A>C
  • NP_000379.3:p.Lys47Asn
  • NP_001171536.2:p.Lys47Asn
  • NC_000003.11:g.121973177A>C
Protein change:
K47N; LYS47ASN
Links:
OMIM: 601199.0028; dbSNP: rs104893702
NCBI 1000 Genomes Browser:
rs104893702
Molecular consequence:
  • NM_000388.4:c.141A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.141A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant hypocalcemia 1 (HYPOC1)
Synonyms:
HYPOCALCEMIA, FAMILIAL
Identifiers:
MONDO: MONDO:0011013; MedGen: C0342345; OMIM: 601198

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029049OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1999) 		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

A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.

Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, Fujita T, Arai M, Totsuka Y, Tanaka K, Fukumoto S.

J Clin Endocrinol Metab. 1999 Jan;84(1):363-6.

PubMed [citation]
PMID:
9920108

Details of each submission

From OMIM, SCV000029049.4

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

Description

Okazaki et al. (1999) reported a 41-year-old male who had asymptomatic hypocalcemia (HYPOC1; 601198) with a history of recurrent nephrolithiasis. His father had asymptomatic hypocalcemia, but his mother was normocalcemic. PCR-SSCP and DNA sequencing revealed that both the proband and his father were heterozygous for a CASR mutation that was predicted to encode a lysine-to-asparagine substitution at codon 47 (K47N), which is in the CASR extracellular domain. The authors concluded that the N-terminal portion of CASR is important in extracellular calcium sensing.

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

Last Updated: Aug 5, 2023