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NM_005184.4(CALM3):c.165G>A (p.Glu55=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 23, 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:
RCV004064749.1

Allele description [Variation Report for NM_005184.4(CALM3):c.165G>A (p.Glu55=)]

NM_005184.4(CALM3):c.165G>A (p.Glu55=)

Gene:
CALM3:calmodulin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_005184.4(CALM3):c.165G>A (p.Glu55=)
HGVS:
  • NC_000019.10:g.46608327G>A
  • NG_051331.1:g.12254G>A
  • NM_001329921.1:c.57G>A
  • NM_001329922.1:c.165G>A
  • NM_001329923.1:c.57G>A
  • NM_001329924.2:c.57G>A
  • NM_001329925.2:c.57G>A
  • NM_001329926.2:c.57G>A
  • NM_005184.4:c.165G>AMANE SELECT
  • NP_001316850.1:p.Glu19=
  • NP_001316851.1:p.Glu55=
  • NP_001316852.1:p.Glu19=
  • NP_001316853.1:p.Glu19=
  • NP_001316854.1:p.Glu19=
  • NP_001316855.1:p.Glu19=
  • NP_005175.2:p.Glu55=
  • LRG_1082t1:c.165G>A
  • LRG_1082:g.12254G>A
  • LRG_1082p1:p.Glu55=
  • NC_000019.9:g.47111584G>A
  • NM_005184.2:c.165G>A
Molecular consequence:
  • NM_001329921.1:c.57G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329922.1:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329923.1:c.57G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329924.2:c.57G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329925.2:c.57G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329926.2:c.57G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005184.4:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV005022929Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 23, 2023) 		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, SCV005022929.1

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

Description

This alteration is classified as likely 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: Sep 29, 2024