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

Recent activity

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complement component C8 beta chain isoform 2 precursor [Mus musculus]
complement component C8 beta chain isoform 2 precursor [Mus musculus]
gi|940373632|ref|NP_001303600.1|

Protein
U7 snRNA-associated Sm-like protein LSm11 isoform X1 [Rattus norvegicus]
U7 snRNA-associated Sm-like protein LSm11 isoform X1 [Rattus norvegicus]
gi|564371475|ref|XP_006246213.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004059207	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004059207

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 14, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004059207.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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