U.S. flag

An official website of the United States government

NM_005184.4(CALM3):c.165G>A (p.Glu55=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 7, 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:
RCV003479444.1

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004223463Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Nov 7, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004223463.1

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

Description

Variant summary: CALM3 c.165G>A alters a conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 251138 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.165G>A in individuals affected with Long QT Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. A co-occurrence with another pathogenic variant has been observed in our laboratory (FLNC c.1880_1887delATGTGCGG, p.Asp672ValfsX16; internal testing), providing supporting evidence for a benign role. One submitter has reported clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Sep 29, 2024