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NM_001276345.2(TNNT2):c.294+5G>A AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2022
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:
RCV002458503.2

Allele description [Variation Report for NM_001276345.2(TNNT2):c.294+5G>A]

NM_001276345.2(TNNT2):c.294+5G>A

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001276345.2(TNNT2):c.294+5G>A
HGVS:
  • NC_000001.11:g.201365605C>T
  • NG_007556.1:g.17073G>A
  • NM_000364.4:c.294+5G>A
  • NM_001001430.3:c.264+5G>A
  • NM_001001431.3:c.264+5G>A
  • NM_001001432.3:c.249+5G>A
  • NM_001276345.2:c.294+5G>AMANE SELECT
  • NM_001276346.2:c.291+5G>A
  • NM_001276347.2:c.264+5G>A
  • LRG_431t1:c.294+5G>A
  • LRG_431:g.17073G>A
  • NC_000001.10:g.201334733C>T
  • NM_001001430.1:c.264+5G>A
Links:
dbSNP: rs533357783
NCBI 1000 Genomes Browser:
rs533357783
Molecular consequence:
  • NM_000364.4:c.294+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001001430.3:c.264+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001001431.3:c.264+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001001432.3:c.249+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276345.2:c.294+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276346.2:c.291+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276347.2:c.264+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002738971Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 29, 2022) 		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, SCV002738971.2

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

Description

The c.264+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 7 in the TNNT2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. 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 16, 2024