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NM_033337.3(CAV3):c.401C>A (p.Ala134Glu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 14, 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:
RCV003341999.2

Allele description [Variation Report for NM_033337.3(CAV3):c.401C>A (p.Ala134Glu)]

NM_033337.3(CAV3):c.401C>A (p.Ala134Glu)

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.401C>A (p.Ala134Glu)
HGVS:
  • NC_000003.12:g.8745812C>A
  • NG_008797.2:g.17003C>A
  • NM_001234.5:c.401C>A
  • NM_033337.3:c.401C>AMANE SELECT
  • NP_001225.1:p.Ala134Glu
  • NP_203123.1:p.Ala134Glu
  • NP_203123.1:p.Ala134Glu
  • LRG_329t1:c.401C>A
  • LRG_329:g.17003C>A
  • LRG_329p1:p.Ala134Glu
  • NC_000003.11:g.8787498C>A
  • NM_033337.2:c.401C>A
Protein change:
A134E
Molecular consequence:
  • NM_001234.5:c.401C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033337.3:c.401C>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
SCV004059207Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 14, 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, SCV004059207.2

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

Description

The p.A134E variant (also known as c.401C>A), located in coding exon 2 of the CAV3 gene, results from a C to A substitution at nucleotide position 401. The alanine at codon 134 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is not 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.

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

Last Updated: Sep 29, 2024