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NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro) AND Bone mineral density quantitative trait locus 15

Germline classification:
risk factor (1 submission)
Last evaluated:
Dec 1, 1998
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:
RCV000019203.2

Allele description [Variation Report for NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro)]

NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro)

Gene:
CALCR:calcitonin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro)
Other names:
P463L
HGVS:
  • NC_000007.14:g.93426441A>G
  • NG_013005.1:g.153290T>C
  • NM_001164737.3:c.1388T>C
  • NM_001164738.2:c.1340T>C
  • NM_001742.4:c.1340T>CMANE SELECT
  • NP_001158209.2:p.Leu463Pro
  • NP_001158210.1:p.Leu447Pro
  • NP_001733.1:p.Leu447Pro
  • LRG_1037t1:c.1340T>C
  • LRG_1037t2:c.1388T>C
  • LRG_1037t3:c.1340T>C
  • LRG_1037:g.153290T>C
  • LRG_1037p1:p.Leu447Pro
  • LRG_1037p2:p.Leu463Pro
  • LRG_1037p3:p.Leu447Pro
  • NC_000007.13:g.93055753A>G
  • NM_001742.3:c.1340T>C
Protein change:
L447P; Pro463Leu
Links:
Genetic Testing Registry (GTR): GTR000557783; OMIM: 114131.0001; dbSNP: rs1801197
NCBI 1000 Genomes Browser:
rs1801197
Molecular consequence:
  • NM_001164737.3:c.1388T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164738.2:c.1340T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001742.4:c.1340T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bone mineral density quantitative trait locus 15 (BMND15)
Synonyms:
COMPRESSION FRACTURE, SUSCEPTIBILITY TO; METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO
Identifiers:
MedGen: C3150680; OMIM: 613418

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039491OMIM
no assertion criteria provided
risk factor
(Dec 1, 1998) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Taboulet, J., Frendo, J. L., Delage-Murroux, R., Pichaud, F., de Vernejoul, M. C., Jullienne, A. Evidence for 2 allelic forms of calcitonin receptor gene: distribution in normal and osteoporotic women. (Abstract) J. Bone Miner. Res. 11 (suppl. 1): S204, 1996.

Help

Summary from all submissions

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

Citations

PubMed

Allelic variants of human calcitonin receptor in the Japanese population.

Nakamura M, Zhang ZQ, Shan L, Hisa T, Sasaki M, Tsukino R, Yokoi T, Kaname A, Kakudo K.

Hum Genet. 1997 Jan;99(1):38-41.

PubMed [citation]
PMID:
9003491

Allelic variants of human calcitonin receptor: distribution and association with bone mass in postmenopausal Italian women.

Masi L, Becherini L, Gennari L, Colli E, Mansani R, Falchetti A, Cepollaro C, Gonnelli S, Tanini A, Brandi ML.

Biochem Biophys Res Commun. 1998 Apr 17;245(2):622-6.

PubMed [citation]
PMID:
9571205
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000039491.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Using the AluI restriction enzyme, Nakamura et al. (1997) demonstrated a RFLP of the CALCR gene. A single amino acid substitution converted codon 463 from CCG (pro) to CTG (leu). Masi et al. (1998) concluded that the TT genotype is associated with significantly lower lumbar bone mass (166710) in comparison with the CC genotype.

This polymorphism was designated pro447 to leu by Taboulet et al. (1996, 1998); the difference in numbering depends on whether the isoform of the calcitonin receptor with the 16-amino acid insert is referred to or not (de Vernejoul, 1999).

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

Last Updated: Mar 16, 2024