U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 11, 2023
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:
RCV002434613.3

Allele description [Variation Report for NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)]

NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)
HGVS:
  • NC_000002.12:g.178598526CTT[2]
  • NG_011618.3:g.237269AAG[2]
  • NG_051363.1:g.80700CTT[2]
  • NM_001256850.1:c.52160AAG[2]
  • NM_001267550.2:c.57083AAG[2]MANE SELECT
  • NM_003319.4:c.29888AAG[2]
  • NM_133378.4:c.49379AAG[2]
  • NM_133432.3:c.30263AAG[2]
  • NM_133437.4:c.30464AAG[2]
  • NP_001243779.1:p.Glu17389del
  • NP_001254479.2:p.Glu19030del
  • NP_003310.4:p.Glu9965del
  • NP_596869.4:p.Glu16462del
  • NP_597676.3:p.Glu10090del
  • NP_597681.4:p.Glu10157del
  • LRG_391t1:c.57089_57091del
  • LRG_391:g.237269AAG[2]
  • NC_000002.11:g.179463253CTT[2]
  • NM_001267550.1:c.57089_57091del
  • NM_001267550.2:c.57089_57091delMANE SELECT
  • NM_003319.4:c.29894_29896delAAG
  • NM_133378.4:c.49385_49387del
Protein change:
E10090del
Links:
dbSNP: rs749887998
NCBI 1000 Genomes Browser:
rs749887998
Molecular consequence:
  • NM_001256850.1:c.52160AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001267550.2:c.57083AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003319.4:c.29888AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_133378.4:c.49379AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_133432.3:c.30263AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_133437.4:c.30464AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV002746327Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 11, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002746327.3

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

Description

The c.29894_29896delAAG variant (also known as p.E9965del) is located in coding exon 119 of the TTN gene. This variant results from an in-frame AAG deletion at nucleotide positions 29894 to 29896. This results in the in-frame deletion of a glutamic acid at codon 9965. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: May 16, 2025