NM_000388.4(CASR):c.501T>A (p.Tyr167Ter) AND Familial hypocalciuric hypercalcemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 5, 2022
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:: RCV002267576.1

Allele description [Variation Report for NM_000388.4(CASR):c.501T>A (p.Tyr167Ter)]

NM_000388.4(CASR):c.501T>A (p.Tyr167Ter)

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.501T>A (p.Tyr167Ter)

HGVS:

NC_000003.12:g.122261536T>A
NG_009058.2:g.82869T>A
NM_000388.4:c.501T>AMANE SELECT
NM_001178065.2:c.501T>A
NP_000379.3:p.Tyr167Ter
NP_001171536.2:p.Tyr167Ter
NC_000003.11:g.121980383T>A

Protein change:

Y167*

Links:

dbSNP: rs387907394

NCBI 1000 Genomes Browser:

rs387907394

Molecular consequence:

NM_000388.4:c.501T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001178065.2:c.501T>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002549729	Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital See additional submitters Shariant Australia, Australian Genomics	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Apr 5, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002549729

Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital

See additional submitters

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Apr 5, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV002549729.1

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

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

Last Updated: Dec 24, 2023

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