NM_001753.5(CAV1):c.202T>G (p.Phe68Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 21, 2021
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:: RCV002418738.2

Allele description [Variation Report for NM_001753.5(CAV1):c.202T>G (p.Phe68Val)]

NM_001753.5(CAV1):c.202T>G (p.Phe68Val)

Gene:

CAV1:caveolin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_001753.5(CAV1):c.202T>G (p.Phe68Val)

HGVS:

NC_000007.14:g.116558952T>G
NG_012051.1:g.39168T>G
NM_001172895.1:c.109T>G
NM_001172896.2:c.109T>G
NM_001172897.2:c.109T>G
NM_001753.5:c.202T>GMANE SELECT
NP_001166366.1:p.Phe37Val
NP_001166367.1:p.Phe37Val
NP_001166368.1:p.Phe37Val
NP_001744.2:p.Phe68Val
NC_000007.13:g.116199006T>G
NM_001753.4:c.202T>G

Protein change:

F37V

Links:

dbSNP: rs752571940

NCBI 1000 Genomes Browser:

rs752571940

Molecular consequence:

NM_001172895.1:c.109T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001172896.2:c.109T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001172897.2:c.109T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001753.5:c.202T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002719629	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 21, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002719629

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 21, 2021)

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, SCV002719629.2

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

Description

The p.F68V variant (also known as c.202T>G), located in coding exon 3 of the CAV1 gene, results from a T to G substitution at nucleotide position 202. The phenylalanine at codon 68 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. 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 1, 2024

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