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NM_000388.4(CASR):c.2154G>A (p.Trp718Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2020
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:
RCV001663824.2

Allele description [Variation Report for NM_000388.4(CASR):c.2154G>A (p.Trp718Ter)]

NM_000388.4(CASR):c.2154G>A (p.Trp718Ter)

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.2154G>A (p.Trp718Ter)
HGVS:
  • NC_000003.12:g.122284108G>A
  • NG_009058.2:g.105441G>A
  • NM_000388.4:c.2154G>AMANE SELECT
  • NM_001178065.2:c.2184G>A
  • NP_000379.3:p.Trp718Ter
  • NP_001171536.2:p.Trp728Ter
  • NC_000003.11:g.122002955G>A
  • NG_009058.1:g.105426G>A
  • NM_000388.2:c.2154G>A
Protein change:
W718*
Links:
dbSNP: rs2074932551
NCBI 1000 Genomes Browser:
rs2074932551
Molecular consequence:
  • NM_000388.4:c.2154G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001178065.2:c.2184G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001879543Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Pathogenic
(Nov 16, 2020) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.

Rus R, Haag C, Bumke-Vogt C, Bähr V, Mayr B, Möhlig M, Schulze E, Frank-Raue K, Raue F, Schöfl C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4797-803. doi: 10.1210/jc.2008-1076. Epub 2008 Sep 16.

PubMed [citation]
PMID:
18796518

A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets.

Szczawinska D, Schnabel D, Letz S, Schöfl C.

J Clin Endocrinol Metab. 2014 Jun;99(6):E1146-53. doi: 10.1210/jc.2013-3593. Epub 2014 Feb 11.

PubMed [citation]
PMID:
24517148
See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV001879543.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. Study showed this variant caused no calcium signaling activity (PMID: 18796518, 24517148).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024