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NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 10, 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:
RCV000244818.4

Allele description [Variation Report for NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)]

NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)

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.281G>C (p.Arg94Thr)
Other names:
p.R84T:AGA>ACA
HGVS:
  • NC_000001.11:g.201365623C>G
  • NG_007556.1:g.17055G>C
  • NM_000364.4:c.281G>C
  • NM_001001430.3:c.251G>C
  • NM_001001431.3:c.251G>C
  • NM_001001432.3:c.236G>C
  • NM_001276345.2:c.281G>CMANE SELECT
  • NM_001276346.2:c.278G>C
  • NM_001276347.2:c.251G>C
  • NP_000355.2:p.Arg94Thr
  • NP_001001430.1:p.Arg84Thr
  • NP_001001431.1:p.Arg84Thr
  • NP_001001432.1:p.Arg79Thr
  • NP_001263274.1:p.Arg94Thr
  • NP_001263275.1:p.Arg93Thr
  • NP_001263276.1:p.Arg84Thr
  • LRG_431t1:c.281G>C
  • LRG_431:g.17055G>C
  • LRG_431p1:p.Arg94Thr
  • NC_000001.10:g.201334751C>G
  • NM_000364.3:c.281G>C
  • NM_001001430.1:c.251G>C
  • c.251G>C
Protein change:
R79T
Links:
dbSNP: rs397516452
NCBI 1000 Genomes Browser:
rs397516452
Molecular consequence:
  • NM_000364.4:c.281G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.251G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.251G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.236G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.281G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.278G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.251G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319791Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 10, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000319791.8

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

Description

The c.251G>C (p.R84T) alteration is located in exon 8 (coding exon 7) of the TNNT2 gene. This alteration results from a G to C substitution at nucleotide position 251, causing the arginine (R) at amino acid position 84 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Mar 11, 2025