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NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 20, 2019
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:
RCV002326800.9

Allele description [Variation Report for NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)]

NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)

Genes:
CAV3:caveolin 3 [Gene - OMIM - HGNC]
OXTR:oxytocin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
Other names:
p.R148Q:CGG>CAG
HGVS:
  • NC_000003.12:g.8745854G>A
  • NG_008797.2:g.17045G>A
  • NM_001234.5:c.443G>A
  • NM_033337.3:c.443G>AMANE SELECT
  • NP_001225.1:p.Arg148Gln
  • NP_203123.1:p.Arg148Gln
  • NP_203123.1:p.Arg148Gln
  • LRG_329t1:c.443G>A
  • LRG_329:g.17045G>A
  • LRG_329p1:p.Arg148Gln
  • NC_000003.11:g.8787540G>A
  • NM_001234.4:c.443G>A
  • NM_033337.2:c.443G>A
Protein change:
R148Q
Links:
dbSNP: rs140575619
NCBI 1000 Genomes Browser:
rs140575619
Molecular consequence:
  • NM_001234.5:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033337.3:c.443G>A - 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
SCV002631308Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 20, 2019) 		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, SCV002631308.2

#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: Nov 10, 2024