NM_033337.3(CAV3):c.416T>C (p.Val139Ala) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 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:: RCV004043355.1

Allele description [Variation Report for NM_033337.3(CAV3):c.416T>C (p.Val139Ala)]

NM_033337.3(CAV3):c.416T>C (p.Val139Ala)

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.416T>C (p.Val139Ala)

HGVS:

NC_000003.12:g.8745827T>C
NG_008797.2:g.17018T>C
NM_001234.5:c.416T>C
NM_033337.2:c.416T>C
NM_033337.3:c.416T>CMANE SELECT
NP_001225.1:p.Val139Ala
NP_203123.1:p.Val139Ala
LRG_329t1:c.416T>C
LRG_329:g.17018T>C
NC_000003.11:g.8787513T>C

Protein change:

V139A

Links:

dbSNP: rs756611208

NCBI 1000 Genomes Browser:

rs756611208

Molecular consequence:

NM_001234.5:c.416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033337.3:c.416T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005029436	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005029436

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 12, 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, SCV005029436.1

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

Description

The p.V139A variant (also known as c.416T>C), located in coding exon 2 of the CAV3 gene, results from a T to C substitution at nucleotide position 416. The valine at codon 139 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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: May 7, 2024

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