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NM_145046.5(CALR3):c.833G>A (p.Arg278His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 2013
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:
RCV000619715.1

Allele description [Variation Report for NM_145046.5(CALR3):c.833G>A (p.Arg278His)]

NM_145046.5(CALR3):c.833G>A (p.Arg278His)

Gene:
CALR3:calreticulin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_145046.5(CALR3):c.833G>A (p.Arg278His)
HGVS:
  • NC_000019.10:g.16482535C>T
  • NG_031959.2:g.150670G>A
  • NM_145046.5:c.833G>AMANE SELECT
  • NP_659483.2:p.Arg278His
  • NP_659483.2:p.Arg278His
  • LRG_422t1:c.833G>A
  • LRG_422:g.150670G>A
  • LRG_422p1:p.Arg278His
  • NC_000019.9:g.16593346C>T
  • NM_145046.3:c.833G>A
  • NM_145046.4:c.833G>A
Protein change:
R278H
Links:
dbSNP: rs1247489343
NCBI 1000 Genomes Browser:
rs1247489343
Molecular consequence:
  • NM_145046.5:c.833G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000739844Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Oct 16, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000739844.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R278H variant (also known as c.833G>A) is located in coding exon 7 of the CALR3gene. This alteration results from a G to A substitution at nucleotide position 833. The arginine at codon 278 is replaced by histidine, an amino acid with highly similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. Based on protein sequence alignment, this amino acidposition is poorly conserved in available vertebrate species, with histidine as the reference amino acid in three species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively.This variant has been detected in conjunction with a pathogenic mutation inMYBPC3by our laboratory. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024