NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) AND Autosomal dominant hypocalcemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1997
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:: RCV000008830.5

Allele description [Variation Report for NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)]

NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)

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.2318T>G (p.Leu773Arg)

HGVS:

NC_000003.12:g.122284272T>G
NG_009058.1:g.105590T>G
NM_000388.4:c.2318T>GMANE SELECT
NM_001178065.2:c.2348T>G
NP_000379.3:p.Leu773Arg
NP_001171536.2:p.Leu783Arg
NC_000003.11:g.122003119T>G

Protein change:

L773R; LEU773ARG

Links:

OMIM: 601199.0019; dbSNP: rs104893699

NCBI 1000 Genomes Browser:

rs104893699

Molecular consequence:

NM_000388.4:c.2318T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.2348T>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029040	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029040

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1997)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

De Luca F, Ray K, Mancilla EE, Fan GF, Winer KK, Gore P, Spiegel AM, Baron J.

J Clin Endocrinol Metab. 1997 Aug;82(8):2710-5.

PubMed [citation]

PMID:: 9253358

Details of each submission

From OMIM, SCV000029040.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

De Luca et al. (1997) described a patient with sporadic hypoparathyroidism (HYPOC1; 601198), who presented with mild symptoms at age 18 years. The patient was heterozygous for a leu773-to-arg (L773R) mutation in the CASR gene that involved the fifth transmembrane domain. The proband's parents lacked the corresponding mutation, indicating that the mutation arose de novo.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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