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NM_001276345.2(TNNT2):c.852-2A>G AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 7, 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:
RCV001227527.2

Allele description [Variation Report for NM_001276345.2(TNNT2):c.852-2A>G]

NM_001276345.2(TNNT2):c.852-2A>G

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.852-2A>G
HGVS:
  • NC_000001.11:g.201359257T>C
  • NG_007556.1:g.23421A>G
  • NM_000364.4:c.843-2A>G
  • NM_001001430.3:c.822-2A>G
  • NM_001001431.3:c.813-2A>G
  • NM_001001432.3:c.804-2A>G
  • NM_001276345.2:c.852-2A>GMANE SELECT
  • NM_001276346.2:c.723-2A>G
  • NM_001276347.2:c.822-2A>G
  • NM_001406723.1:c.843-2A>G
  • NM_001406724.1:c.822-2A>G
  • NM_001406725.1:c.819-2A>G
  • NM_001406726.1:c.813-2A>G
  • NM_001406727.1:c.813-2A>G
  • NM_001406728.1:c.807-2A>G
  • LRG_431t1:c.852-2A>G
  • LRG_431:g.23421A>G
  • NC_000001.10:g.201328385T>C
  • NM_001001430.2:c.822-2A>G
Links:
dbSNP: rs111692981
NCBI 1000 Genomes Browser:
rs111692981
Molecular consequence:
  • NM_000364.4:c.843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001001430.3:c.822-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001001431.3:c.813-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001001432.3:c.804-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001276345.2:c.852-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001276346.2:c.723-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001276347.2:c.822-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406723.1:c.843-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406724.1:c.822-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406725.1:c.819-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406726.1:c.813-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406727.1:c.813-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406728.1:c.807-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hypertrophic cardiomyopathy 2
Synonyms:
Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0007266; MedGen: C1861864; OMIM: 115195
Name:
Dilated cardiomyopathy 1D
Synonyms:
Left ventricular noncompaction 6
Identifiers:
MONDO: MONDO:0011095; MedGen: C1832243; Orphanet: 154; Orphanet: 54260; OMIM: 601494
Name:
Cardiomyopathy, familial restrictive, 3
Identifiers:
MONDO: MONDO:0012900; MedGen: C2676271; Orphanet: 75249; OMIM: 612422

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001399888Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 7, 2019) 		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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001399888.1

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

Description

This sequence change falls in intron 15 of the TNNT2 gene. It does not directly change the encoded amino acid sequence of the TNNT2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNNT2-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024