U.S. flag

An official website of the United States government

NM_032588.4(TRIM63):c.437_442delinsCC (p.Lys146fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 2024
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:
RCV004560381.2

Allele description [Variation Report for NM_032588.4(TRIM63):c.437_442delinsCC (p.Lys146fs)]

NM_032588.4(TRIM63):c.437_442delinsCC (p.Lys146fs)

Gene:
TRIM63:tripartite motif containing 63 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_032588.4(TRIM63):c.437_442delinsCC (p.Lys146fs)
HGVS:
  • NC_000001.11:g.26061225_26061230delinsGG
  • NG_033268.1:g.11405_11410delinsCC
  • NM_032588.4:c.437_442delinsCCMANE SELECT
  • NP_115977.2:p.Lys146Thrfs
  • NP_115977.2:p.Lys146fs
  • LRG_757t1:c.437_442delAGGTGTinsCC
  • LRG_757:g.11405_11410delinsCC
  • LRG_757p1:p.Lys146Thrfs
  • NC_000001.10:g.26387716_26387721delinsGG
  • NM_032588.3:c.437_442delAGGTGTinsCC
Protein change:
K146fs
Molecular consequence:
  • NM_032588.4:c.437_442delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV005047075Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 4, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV005047075.1

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

Description

The TRIM63 c.437_442delinsCC (p.Lys146Thrfs*24) variant was identified. This variant represents a deletion of four nucleotides directly followed by a two nucleotide substitution, resulting in frameshift and ultimately premature termination that is predicted to lead to nonsense-mediated decay. The TRIM63 c.437_442delinsCC (p.Lys146Thrfs*24) variant has been observed in two unrelated individuals with hypertrophic cardiomyopathy, one in the homozygous state and the other in a compound heterozygous state (Salazar-Mendiguchía, J et al,. PMID: 32451364). This variant is absent from the general population (gnomAD v.2.1.1). Due to limited information, the clinical significance of this variant is uncertain at this time.

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

Last Updated: Jun 23, 2024