U.S. flag

An official website of the United States government

NM_033337.3(CAV3):c.247C>T (p.Pro83Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 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:
RCV002499640.1

Allele description [Variation Report for NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)]

NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)

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.247C>T (p.Pro83Ser)
HGVS:
  • NC_000003.12:g.8745658C>T
  • NG_008797.2:g.16849C>T
  • NM_001234.5:c.247C>T
  • NM_033337.3:c.247C>TMANE SELECT
  • NP_001225.1:p.Pro83Ser
  • NP_203123.1:p.Pro83Ser
  • LRG_329:g.16849C>T
  • NC_000003.11:g.8787344C>T
Protein change:
P83S
Links:
dbSNP: rs137881434
NCBI 1000 Genomes Browser:
rs137881434
Molecular consequence:
  • NM_001234.5:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033337.3:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Elevated circulating creatine kinase concentration
Synonyms:
HYPERCKEMIA, IDIOPATHIC; Elevated serum creatine phosphokinase; CAV3-Related Isolated HyperCKemia
Identifiers:
MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236
Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600
Name:
Long QT syndrome 9 (LQT9)
Identifiers:
MONDO: MONDO:0012736; MedGen: C2678485; Orphanet: 101016; Orphanet: 768; OMIM: 611818
Name:
Rippling muscle disease 2 (RMD2)
Synonyms:
Limb-girdle muscular dystrophy, type 1C; CAV3-Related Rippling Muscle Disease
Identifiers:
MONDO: MONDO:0019947; MedGen: C1832560; Orphanet: 265; OMIM: 606072
Name:
Distal myopathy, Tateyama type (MPDT)
Synonyms:
CAV3-Related Distal Myopathy
Identifiers:
MONDO: MONDO:0013686; MedGen: C3280443; OMIM: 614321

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002782072Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 14, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002782072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024