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NM_001267550.2(TTN):c.48638+5del AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 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:
RCV002431966.2

Allele description [Variation Report for NM_001267550.2(TTN):c.48638+5del]

NM_001267550.2(TTN):c.48638+5del

Genes:
LOC126806426:BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 [Gene]
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.48638+5del
HGVS:
  • NC_000002.12:g.178615303del
  • NG_011618.3:g.220501del
  • NG_051363.1:g.97477del
  • NM_001256850.1:c.43715+5del
  • NM_001267550.2:c.48638+5delMANE SELECT
  • NM_003319.4:c.21443+5del
  • NM_133378.4:c.40934+5del
  • NM_133432.3:c.21818+5del
  • NM_133437.4:c.22019+5del
  • LRG_391:g.220501del
  • NC_000002.11:g.179480029del
  • NC_000002.11:g.179480030del
  • NM_003319.4:c.21443+5delG
Links:
dbSNP: rs2057135287
NCBI 1000 Genomes Browser:
rs2057135287
Molecular consequence:
  • NM_001256850.1:c.43715+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.48638+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.21443+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.40934+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.21818+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.22019+5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002726659Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jul 7, 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, SCV002726659.2

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

Description

The c.21443+5delG intronic variant is located 5 nucleotides after coding exon 86 in the TTN gene. This variant results from a deletion of one nucleotide at position c.21443+5. This nucleotide position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, but is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; however, direct evidence is unavailable. 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