NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 13, 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:: RCV004022703.1

Allele description [Variation Report for NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser)]

NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser)

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.446T>G (p.Ile149Ser)

HGVS:

NC_000001.11:g.115738310A>C
NG_008802.1:g.35496T>G
NM_001232.4:c.446T>GMANE SELECT
NP_001223.2:p.Ile149Ser
NP_001223.2:p.Ile149Ser
LRG_404t1:c.446T>G
LRG_404:g.35496T>G
LRG_404p1:p.Ile149Ser
NC_000001.10:g.116280931A>C
NM_001232.3:c.446T>G

Protein change:

I149S

Links:

dbSNP: rs1060502165

NCBI 1000 Genomes Browser:

rs1060502165

Molecular consequence:

NM_001232.4:c.446T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005017053	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005017053

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 13, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005017053.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.I149S variant (also known as c.446T>G), located in coding exon 4 of the CASQ2 gene, results from a T to G substitution at nucleotide position 446. The isoleucine at codon 149 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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