NM_000388.4(CASR):c.196C>T (p.Arg66Cys) AND Familial hypocalciuric hypercalcemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1995
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:: RCV000008837.6

Allele description [Variation Report for NM_000388.4(CASR):c.196C>T (p.Arg66Cys)]

NM_000388.4(CASR):c.196C>T (p.Arg66Cys)

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.196C>T (p.Arg66Cys)

Other names:

R67C

HGVS:

NC_000003.12:g.122257091C>T
NG_009058.1:g.78409C>T
NM_000388.4:c.196C>TMANE SELECT
NM_001178065.2:c.196C>T
NP_000379.3:p.Arg66Cys
NP_001171536.2:p.Arg66Cys
NC_000003.11:g.121975938C>T
NM_000388.3:c.196C>T

Protein change:

R66C; ARG67CYS

Links:

OMIM: 601199.0026; dbSNP: rs121909266

NCBI 1000 Genomes Browser:

rs121909266

Molecular consequence:

NM_000388.4:c.196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.196C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029047	OMIM	no assertion criteria provided	Pathogenic (May 1, 1995)	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

SCV000029047

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1995)

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

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG, et al.

Am J Hum Genet. 1995 May;56(5):1075-9.

PubMed [citation]

PMID:: 7726161
PMCID:: PMC1801464

Details of each submission

From OMIM, SCV000029047.5

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

Description

For discussion of the arg67-to-cys (R67C) mutation in the CASR gene that was found in compound heterozygous state in studies of DNA from 22 unrelated families or individuals with definite or possible familial hypocalciuric hypercalcemia (HHC1; 145980) by Chou et al. (1995), see 601199.0022.

#	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: Sep 29, 2024

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