U.S. flag

An official website of the United States government

NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 30, 2020
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:
RCV002450168.2

Allele description [Variation Report for NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)]

NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)

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.236G>C (p.Cys79Ser)
HGVS:
  • NC_000011.10:g.19188181C>G
  • NG_011932.2:g.27393G>C
  • NM_001127656.1:c.236G>C
  • NM_001369404.1:c.113-1833G>C
  • NM_003476.5:c.236G>CMANE SELECT
  • NP_001121128.1:p.Cys79Ser
  • NP_003467.1:p.Cys79Ser
  • NP_003467.1:p.Cys79Ser
  • LRG_440t1:c.236G>C
  • LRG_440:g.27393G>C
  • LRG_440p1:p.Cys79Ser
  • NC_000011.9:g.19209728C>G
  • NM_003476.3:c.236G>C
Protein change:
C79S
Molecular consequence:
  • NM_001369404.1:c.113-1833G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127656.1:c.236G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003476.5:c.236G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002735023Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 30, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002735023.2

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

Description

The p.C79S variant (also known as c.236G>C), located in coding exon 2 of the CSRP3 gene, results from a G to C substitution at nucleotide position 236. The cysteine at codon 79 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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