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NM_001267550.2(TTN):c.44281+5G>A AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 20, 2019
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:
RCV002398018.2

Allele description [Variation Report for NM_001267550.2(TTN):c.44281+5G>A]

NM_001267550.2(TTN):c.44281+5G>A

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.44281+5G>A
HGVS:
  • NC_000002.12:g.178630236C>T
  • NG_011618.3:g.205567G>A
  • NM_001256850.1:c.39358+5G>A
  • NM_001267550.2:c.44281+5G>AMANE SELECT
  • NM_003319.4:c.17086+5G>A
  • NM_133378.4:c.36577+5G>A
  • NM_133432.3:c.17461+5G>A
  • NM_133437.4:c.17662+5G>A
  • LRG_391:g.205567G>A
  • NC_000002.11:g.179494963C>T
  • NM_001267550.2:c.44281+5G>A
Links:
dbSNP: rs2059634223
NCBI 1000 Genomes Browser:
rs2059634223
Molecular consequence:
  • NM_001256850.1:c.39358+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.44281+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.17086+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.36577+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.17461+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.17662+5G>A - 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
SCV002712240Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Nov 20, 2019)
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, SCV002712240.2

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

Description

The c.17086+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 66 in the TTN gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; 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