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NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2021
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:
RCV001805071.1

Allele description [Variation Report for NM_000388.4(CASR):c.1327C>A (p.Leu443Ile)]

NM_000388.4(CASR):c.1327C>A (p.Leu443Ile)

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.1327C>A (p.Leu443Ile)
HGVS:
  • NC_000003.12:g.122262362C>A
  • NG_009058.1:g.83680C>A
  • NM_000388.4:c.1327C>AMANE SELECT
  • NM_001178065.2:c.1327C>A
  • NP_000379.3:p.Leu443Ile
  • NP_001171536.2:p.Leu443Ile
  • NC_000003.11:g.121981209C>A
  • NM_000388.3:c.1327C>A
Protein change:
L443I
Links:
dbSNP: rs267599574
NCBI 1000 Genomes Browser:
rs267599574
Molecular consequence:
  • NM_000388.4:c.1327C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.1327C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002051186Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 17, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002051186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: CASR c.1327C>A (p.Leu443Ile) results in a conservative amino acid change located in the Receptor, ligand binding region (IPR001828) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250360 control chromosomes, however, the available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1327C>A in individuals affected with Familial Hypocalciuric Hypercalcemia and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed this variant since 2014: it was classified as of uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 20, 2024