NM_000388.4(CASR):c.379G>A (p.Glu127Lys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 28, 2019
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:: RCV001586094.3

Allele description [Variation Report for NM_000388.4(CASR):c.379G>A (p.Glu127Lys)]

NM_000388.4(CASR):c.379G>A (p.Glu127Lys)

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.379G>A (p.Glu127Lys)

HGVS:

NC_000003.12:g.122257274G>A
NG_009058.2:g.78607G>A
NM_000388.4:c.379G>AMANE SELECT
NM_001178065.2:c.379G>A
NP_000379.3:p.Glu127Lys
NP_001171536.2:p.Glu127Lys
NC_000003.11:g.121976121G>A
NG_009058.1:g.78592G>A
NM_000388.3:c.379G>A

Protein change:

E127K

Links:

dbSNP: rs2074565202

NCBI 1000 Genomes Browser:

rs2074565202

Molecular consequence:

NM_000388.4:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Increased function

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001810797	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001810797

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 28, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001810797.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published functional studies demonstrate a damaging effect (Lienhardt et al., 2001); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11701698)

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

Last Updated: Dec 17, 2023

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