U.S. flag

An official website of the United States government

NM_003476.5(CSRP3):c.579_582del (p.Lys193fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2014
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:
RCV000150365.5

Allele description [Variation Report for NM_003476.5(CSRP3):c.579_582del (p.Lys193fs)]

NM_003476.5(CSRP3):c.579_582del (p.Lys193fs)

Gene:
CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_003476.5(CSRP3):c.579_582del (p.Lys193fs)
HGVS:
  • NC_000011.10:g.19182675CTTT[1]
  • NG_011932.2:g.32894AGAA[1]
  • NM_001369404.1:c.410_413del
  • NM_003476.5:c.579_582delMANE SELECT
  • NP_001356333.1:p.Lys137fs
  • NP_003467.1:p.Lys193fs
  • LRG_440t1:c.579_582del
  • LRG_440:g.32894AGAA[1]
  • NC_000011.9:g.19204220_19204223delTTCT
  • NC_000011.9:g.19204222CTTT[1]
  • NM_003476.3:c.579_582delAGAA
  • NM_003476.5:c.579_582delAGAAMANE SELECT
  • p.Lys193AsnfsX14
Protein change:
K137fs
Links:
dbSNP: rs727502946
NCBI 1000 Genomes Browser:
rs727502946
Molecular consequence:
  • NM_001369404.1:c.410_413del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003476.5:c.579_582del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000197488Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Dec 22, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197488.3

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

Description

The p.Lys193fsExtX13 variant in CSRP3 has not been previously reported in indivi duals with cardiomyopathy and data from large population studies is insufficient to assess its frequency. This variant leads to a frameshift at amino acid 193 a nd then alters the stop codon such that 12 additional amino acids are generated before introducing a new stop codon. It is currently unclear how this alteration would impact the protein. In summary, the clinical significance of the p.Lys193 fsExtX13 variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Apr 20, 2024