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NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) AND Autosomal dominant hypocalcemia 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 16, 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:
RCV001376143.1

Allele description [Variation Report for NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)]

NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)

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.3040C>T (p.Leu1014Phe)
HGVS:
  • NC_000003.12:g.122284994C>T
  • NG_009058.1:g.106312C>T
  • NM_000388.4:c.3040C>TMANE SELECT
  • NM_001178065.2:c.3070C>T
  • NP_000379.3:p.Leu1014Phe
  • NP_001171536.2:p.Leu1024Phe
  • NC_000003.11:g.122003841C>T
  • NM_000388.2:c.3040C>T
  • NM_000388.3:c.3040C>T
Protein change:
L1014F
Links:
dbSNP: rs202219108
NCBI 1000 Genomes Browser:
rs202219108
Molecular consequence:
  • NM_000388.4:c.3040C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.3070C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV001573152Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 16, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Johns Hopkins Genomics, Johns Hopkins University, SCV001573152.1

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

Description

This CASR variant (rs202219108) is rare (<0.1%) in a large population dataset (gnomAD: 1/251412 total alleles; 0.0004%; no homozygotes) and has not been reported in the literature, to our knowledge. This variant has been reported in ClinVar (Variation #: 585622). Of three bioinformatics tools queried, two predict that the substitution would be damaging while one predicts that it would be tolerated. The leucine at this position is evolutionarily conserved across many of the species assessed. We consider the clinical significance of c.3040C>T to be uncertain at this time.

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

Last Updated: Sep 29, 2024