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NM_000388.4(CASR):c.1103T>G (p.Leu368Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 4, 2023
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:
RCV003809331.2

Allele description [Variation Report for NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)]

NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)

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.1103T>G (p.Leu368Ter)
HGVS:
  • NC_000003.12:g.122262138T>G
  • NG_009058.2:g.83471T>G
  • NM_000388.4:c.1103T>GMANE SELECT
  • NM_001178065.2:c.1103T>G
  • NP_000379.3:p.Leu368Ter
  • NP_001171536.2:p.Leu368Ter
  • NC_000003.11:g.121980985T>G
Protein change:
L368*
Molecular consequence:
  • NM_000388.4:c.1103T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001178065.2:c.1103T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial hypocalciuric hypercalcemia (FHH)
Synonyms:
Familial benign hypercalcemia
Identifiers:
MONDO: MONDO:0018458; MedGen: C1809471; OMIM: PS145980
Name:
Autosomal dominant hypocalcemia 1 (HYPOC1)
Synonyms:
HYPOCALCEMIA, FAMILIAL
Identifiers:
MONDO: MONDO:0011013; MedGen: C0342345; OMIM: 601198

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004595349Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 4, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ.

Medicine (Baltimore). 2002 Jan;81(1):1-26. Review. No abstract available.

PubMed [citation]
PMID:
11807402

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J.

J Med Genet. 2004 Mar;41(3):155-60.

PubMed [citation]
PMID:
14985373
PMCID:
PMC1735699
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004595349.1

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

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CASR-related conditions. This sequence change creates a premature translational stop signal (p.Leu368*) in the CASR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CASR are known to be pathogenic (PMID: 11807402, 14985373, 22422767).

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

Last Updated: Sep 29, 2024