NM_000388.4(CASR):c.571G>A (p.Glu191Lys) AND Autosomal dominant hypocalcemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 10, 1996
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:: RCV000008828.4

Allele description [Variation Report for NM_000388.4(CASR):c.571G>A (p.Glu191Lys)]

NM_000388.4(CASR):c.571G>A (p.Glu191Lys)

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.571G>A (p.Glu191Lys)

HGVS:

NC_000003.12:g.122261606G>A
NG_009058.1:g.82924G>A
NM_000388.4:c.571G>AMANE SELECT
NM_001178065.2:c.571G>A
NP_000379.3:p.Glu191Lys
NP_001171536.2:p.Glu191Lys
NC_000003.11:g.121980453G>A

Protein change:

E191K; GLU191LYS

Links:

OMIM: 601199.0016; dbSNP: rs104893697

NCBI 1000 Genomes Browser:

rs104893697

Molecular consequence:

NM_000388.4:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.571G>A - 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
SCV000029038	OMIM	no assertion criteria provided	Pathogenic (Oct 10, 1996)	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

SCV000029038

OMIM

no assertion criteria provided

Pathogenic
(Oct 10, 1996)

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

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV.

N Engl J Med. 1996 Oct 10;335(15):1115-22.

PubMed [citation]

PMID:: 8813042

Details of each submission

From OMIM, SCV000029038.3

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

Description

In a family with hypercalciuric hypocalcemia (HYPOC1; 601198), Pearce et al. (1996) identified heterozygosity for a glu191-to-lys mutation (E191K) of the CASR gene.

#	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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