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NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 2024
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:
RCV000617352.4

Allele description [Variation Report for NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)]

NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)

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.277G>T (p.Ala93Ser)
Other names:
p.A93S:GCC>TCC
HGVS:
  • NC_000003.12:g.8745688G>T
  • NG_008797.2:g.16879G>T
  • NM_001234.5:c.277G>T
  • NM_033337.3:c.277G>TMANE SELECT
  • NP_001225.1:p.Ala93Ser
  • NP_203123.1:p.Ala93Ser
  • NP_203123.1:p.Ala93Ser
  • LRG_329t1:c.277G>T
  • LRG_329:g.16879G>T
  • LRG_329p1:p.Ala93Ser
  • NC_000003.11:g.8787374G>T
  • NM_033337.2:c.277G>T
Protein change:
A93S
Links:
dbSNP: rs28936686
NCBI 1000 Genomes Browser:
rs28936686
Molecular consequence:
  • NM_001234.5:c.277G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033337.3:c.277G>T - 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
SCV000737435Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 5, 2024) 		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, SCV000737435.5

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

Description

The p.A93S variant (also known as c.277G>T), located in coding exon 2 of the CAV3 gene, results from a G to T substitution at nucleotide position 277. The alanine at codon 93 is replaced by serine, an amino acid with similar properties. Another alteration at the same codon, p.A93T (c.277G>A), has been has been reported in the homozygous state in individuals with rippling muscle disease (RMD) and limb-girdle muscular dystrophy, and one study indicated reduction of CAV3 protein expression and caveolae in skeletal muscle from a homozygous individual (Kubisch C et al. Ann. Neurol., 2003 Apr;53:512-20; Kubisch C et al. Ann. Neurol., 2005 Feb;57:303-4; Magri F et al. Muscle Nerve, 2016 May). This amino acid position is highly conserved in available vertebrate species. 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.

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

Last Updated: Sep 29, 2024