U.S. flag

An official website of the United States government

NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 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:
RCV002326912.3

Allele description [Variation Report for NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)]

NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)

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.473G>A (p.Arg158Gln)
Other names:
p.R148Q:CGG>CAG
HGVS:
  • NC_000001.11:g.201364314C>T
  • NG_007556.1:g.18364G>A
  • NM_000364.4:c.473G>A
  • NM_001001430.3:c.443G>A
  • NM_001001431.3:c.443G>A
  • NM_001001432.3:c.428G>A
  • NM_001276345.2:c.473G>AMANE SELECT
  • NM_001276346.2:c.353G>A
  • NM_001276347.2:c.443G>A
  • NP_000355.2:p.Arg158Gln
  • NP_001001430.1:p.Arg148Gln
  • NP_001001431.1:p.Arg148Gln
  • NP_001001432.1:p.Arg143Gln
  • NP_001263274.1:p.Arg158Gln
  • NP_001263275.1:p.Arg118Gln
  • NP_001263276.1:p.Arg148Gln
  • LRG_431t1:c.473G>A
  • LRG_431:g.18364G>A
  • LRG_431p1:p.Arg158Gln
  • NC_000001.10:g.201333442C>T
  • NM_001001430.1:c.443G>A
  • NM_001276345.2:c.473G>A
Protein change:
R118Q
Links:
dbSNP: rs730881102
NCBI 1000 Genomes Browser:
rs730881102
Molecular consequence:
  • NM_000364.4:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.428G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.353G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002632289Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Functional Annotation of TNNT2 Variants of Uncertain Significance With Genome-Edited Cardiomyocytes.

Lv W, Qiao L, Petrenko N, Li W, Owens AT, McDermott-Roe C, Musunuru K.

Circulation. 2018 Dec 11;138(24):2852-2854. doi: 10.1161/CIRCULATIONAHA.118.035028. No abstract available.

PubMed [citation]
PMID:
30565988
PMCID:
PMC6309910

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP.

Circulation. 2019 Jul 16;140(3):184-192. doi: 10.1161/CIRCULATIONAHA.118.038846. Epub 2019 Apr 22.

PubMed [citation]
PMID:
31006259
PMCID:
PMC6636798

Details of each submission

From Ambry Genetics, SCV002632289.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.R148Q variant (also known as c.443G>A), located in coding exon 9 of the TNNT2 gene, results from a G to A substitution at nucleotide position 443. The arginine at codon 148 is replaced by glutamine, an amino acid with highly similar properties. This variant was reported in a hypertrophic cardiomyopathy cohort; however, clinical details were limited (Norrish G et al. Circulation, 2019 Jul;140:184-192). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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