NM_000388.4(CASR):c.384C>A (p.Phe128Leu) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 7, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000623375.2

Allele description [Variation Report for NM_000388.4(CASR):c.384C>A (p.Phe128Leu)]

NM_000388.4(CASR):c.384C>A (p.Phe128Leu)

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.384C>A (p.Phe128Leu)

HGVS:

NC_000003.12:g.122257279C>A
NG_009058.1:g.78597C>A
NM_000388.4:c.384C>AMANE SELECT
NM_001178065.2:c.384C>A
NP_000379.3:p.Phe128Leu
NP_001171536.2:p.Phe128Leu
NC_000003.11:g.121976126C>A
NM_000388.3:c.384C>A

Protein change:

F128L

Links:

dbSNP: rs1553766262

NCBI 1000 Genomes Browser:

rs1553766262

Molecular consequence:

NM_000388.4:c.384C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.384C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742386	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Aug 7, 2017)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 8813042, 8878438, 17284438, 21645025, 20846291, 11089548, 22422767 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742386

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Aug 7, 2017)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

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

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

Pearce SH, Bai M, Quinn SJ, Kifor O, Brown EM, Thakker RV.

J Clin Invest. 1996 Oct 15;98(8):1860-6.

PubMed [citation]

PMID:: 8878438
PMCID:: PMC507626

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000742386.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (7)

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

Last Updated: Jan 7, 2023

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