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NM_001232.4(CASQ2):c.196_198delinsGCA (p.Thr66Ala) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 6, 2022
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:
RCV002421722.2

Allele description [Variation Report for NM_001232.4(CASQ2):c.196_198delinsGCA (p.Thr66Ala)]

NM_001232.4(CASQ2):c.196_198delinsGCA (p.Thr66Ala)

Gene:
CASQ2:calsequestrin 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p13.1
Genomic location:
Preferred name:
NM_001232.4(CASQ2):c.196_198delinsGCA (p.Thr66Ala)
HGVS:
  • NC_000001.11:g.115768344_115768346delinsTGC
  • NG_008802.1:g.5460_5462delinsGCA
  • NM_001232.4:c.196_198delinsGCAMANE SELECT
  • NP_001223.2:p.Thr66Ala
  • NP_001223.2:p.Thr66Ala
  • LRG_404t1:c.196_198delACGinsGCA
  • LRG_404:g.5460_5462delinsGCA
  • LRG_404p1:p.Thr66Ala
  • NC_000001.10:g.116310965_116310967delinsTGC
  • NM_001232.3:c.196_198delACGinsGCA
Protein change:
T66A
Molecular consequence:
  • NM_001232.4:c.196_198delinsGCA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002722144Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Apr 6, 2022) 		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 Ambry Genetics, SCV002722144.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024