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NM_003476.5(CSRP3):c.437G>A (p.Arg146His) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001254750.1

Allele description [Variation Report for NM_003476.5(CSRP3):c.437G>A (p.Arg146His)]

NM_003476.5(CSRP3):c.437G>A (p.Arg146His)

Gene:
CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_003476.5(CSRP3):c.437G>A (p.Arg146His)
HGVS:
  • NC_000011.10:g.19185023C>T
  • NG_011932.2:g.30551G>A
  • NM_001369404.1:c.268G>A
  • NM_003476.5:c.437G>AMANE SELECT
  • NP_001356333.1:p.Ala90Thr
  • NP_003467.1:p.Arg146His
  • LRG_440t1:c.437G>A
  • LRG_440:g.30551G>A
  • NC_000011.9:g.19206570C>T
  • NM_003476.3:c.437G>A
  • NM_003476.4:c.437G>A
Protein change:
A90T
Links:
dbSNP: rs377066670
NCBI 1000 Genomes Browser:
rs377066670
Molecular consequence:
  • NM_001369404.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003476.5:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV001430839Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
no assertion criteria provided
Uncertain significance
(Nov 28, 2019) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, SCV001430839.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

The CSRP3 Arg146His variant is present in the Genome Aggregation Database (http://gnomad.broadinstitute.org/) at an allele frequency of 0.00002. We have identified this variant in 1 HCM proband who has no family history of disease or SCD. Interestingly, a different rare variant at this position (Arg146Cys) has been reported in cardiomyopathy patients. Computational tools SIFT, MutationTaster, and PolyPhen-2 predict this variant to have a deleterious effect. Although there is evidence to suggest that CSRP3 variants are associated with HCM (Geier C. et al., 2008), further investigation is required to fully understand the role of CSRP3 Arg146His in disease pathogenesis. Hence, we classify CSRP3 Arg146His as a variant of "uncertain significance".

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

Last Updated: Sep 29, 2024