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NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
May 14, 2019
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:
RCV000852754.9

Allele description [Variation Report for NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)]

NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)

Gene:
FKRP:fukutin related protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
Other names:
p.R143S:CGC>AGC
HGVS:
  • NC_000019.10:g.46755877C>A
  • NG_008898.2:g.14832C>A
  • NM_001039885.3:c.427C>A
  • NM_024301.5:c.427C>AMANE SELECT
  • NP_001034974.1:p.Arg143Ser
  • NP_077277.1:p.Arg143Ser
  • NP_077277.1:p.Arg143Ser
  • LRG_761t1:c.427C>A
  • LRG_761:g.14832C>A
  • LRG_761p1:p.Arg143Ser
  • NC_000019.9:g.47259134C>A
  • NM_024301.4:c.427C>A
  • Q9H9S5:p.Arg143Ser
Protein change:
R143S
Links:
UniProtKB: Q9H9S5#VAR_018282; dbSNP: rs148206382
NCBI 1000 Genomes Browser:
rs148206382
Molecular consequence:
  • NM_001039885.3:c.427C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.427C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995472Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(May 14, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not 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 Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego, SCV000995472.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 20, 2024