U.S. flag

An official website of the United States government

NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 21, 2022
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:
RCV000620585.2

Allele description [Variation Report for NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp)]

NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp)

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.208G>T (p.Gly70Trp)
HGVS:
  • NC_000011.10:g.19188209C>A
  • NG_011932.2:g.27365G>T
  • NM_001369404.1:c.113-1861G>T
  • NM_003476.5:c.208G>TMANE SELECT
  • NP_003467.1:p.Gly70Trp
  • LRG_440t1:c.208G>T
  • LRG_440:g.27365G>T
  • NC_000011.9:g.19209756C>A
  • NM_003476.3:c.208G>T
Protein change:
G70W
Links:
dbSNP: rs777211110
NCBI 1000 Genomes Browser:
rs777211110
Molecular consequence:
  • NM_001369404.1:c.113-1861G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003476.5:c.208G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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
SCV000740111Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 21, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.

Micheu MM, Popa-Fotea NM, Oprescu N, Bogdan S, Dan M, Deaconu A, Dorobantu L, Gheorghe-Fronea O, Greavu M, Iorgulescu C, Scafa-Udriste A, Ticulescu R, Vatasescu RG, Dorobanțu M.

Diagnostics (Basel). 2020 Dec 7;10(12). doi:pii: E1061. 10.3390/diagnostics10121061.

PubMed [citation]
PMID:
33297573
PMCID:
PMC7762332

Details of each submission

From Ambry Genetics, SCV000740111.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.G70W variant (also known as c.208G>T), located in coding exon 2 of the CSRP3 gene, results from a G to T substitution at nucleotide position 208. The glycine at codon 70 is replaced by tryptophan, an amino acid with highly dissimilar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, clinical details were limited (Micheu MM et al. Diagnostics (Basel), 2020 Dec;10:). 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024