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NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 12, 2017
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:
RCV000036594.6

Allele description [Variation Report for NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)]

NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)

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.505C>T (p.Arg169Ter)
HGVS:
  • NC_000001.11:g.201363391G>A
  • NG_007556.1:g.19287C>T
  • NM_000364.4:c.505C>T
  • NM_001001430.3:c.475C>T
  • NM_001001431.3:c.475C>T
  • NM_001001432.3:c.460C>T
  • NM_001276345.2:c.505C>TMANE SELECT
  • NM_001276346.2:c.385C>T
  • NM_001276347.2:c.475C>T
  • NP_000355.2:p.Arg169Ter
  • NP_001001430.1:p.Arg159Ter
  • NP_001001431.1:p.Arg159Ter
  • NP_001001432.1:p.Arg154Ter
  • NP_001263274.1:p.Arg169Ter
  • NP_001263275.1:p.Arg129Ter
  • NP_001263276.1:p.Arg159Ter
  • LRG_431t1:c.505C>T
  • LRG_431:g.19287C>T
  • LRG_431p1:p.Arg169Ter
  • NC_000001.10:g.201332519G>A
  • NM_001001430.1:c.475C>T
  • NM_001001430.2:c.475C>T
  • c.475C>T
  • p.Arg159X
Protein change:
R129*
Links:
dbSNP: rs397516469
NCBI 1000 Genomes Browser:
rs397516469
Molecular consequence:
  • NM_000364.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001001430.3:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001001431.3:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001001432.3:c.460C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276345.2:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276346.2:c.385C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276347.2:c.475C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000060249Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 12, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060249.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg159X v ariant in TNNT2 has been identified by our laboratory in 1 African American indi vidual with DCM and LVNC. This variant has been identified in 1/10404 African Am erican chromosomes and 1/66734 European chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516469). This nonsense variant leads to a premature termination codon at position 159, which is predic ted to lead to a truncated or absent protein. Truncating variants in TNNT2 have been reported to cause disease but are rare and their significance has not been well established. In summary, while there is some suspicion for a pathogenic rol e, the clinical significance of the p.Arg159X variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: May 1, 2024