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NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2014
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:
RCV000170886.10

Allele description [Variation Report for NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)]

NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)

Gene:
CASQ2:calsequestrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.1
Genomic location:
Preferred name:
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)
Other names:
p.I161L:ATT>CTT
HGVS:
  • NC_000001.11:g.115738275T>G
  • NG_008802.1:g.35531A>C
  • NM_001232.4:c.481A>CMANE SELECT
  • NP_001223.2:p.Ile161Leu
  • NP_001223.2:p.Ile161Leu
  • LRG_404t1:c.481A>C
  • LRG_404:g.35531A>C
  • LRG_404p1:p.Ile161Leu
  • NC_000001.10:g.116280896T>G
  • NM_001232.3:c.481A>C
Protein change:
I161L
Links:
dbSNP: rs146333579
NCBI 1000 Genomes Browser:
rs146333579
Molecular consequence:
  • NM_001232.4:c.481A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223443GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 4, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000223443.11

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

Description

p.Ile161Leu (ATT>CTT): c.481 A>C in exon 4 of the CASQ2 gene (NM_001232.3). A variant of unknown significance has been identified in the CASQ2 gene. The I161L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The I161L variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I161L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. However, a missense mutations in a nearby residue (L167H) has been reported in association with CPVT, supporting the functional importance of this region of the protein. The variant is found in CPVT panel(s).

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

Last Updated: Oct 20, 2024