NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 27, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001751548.15

Allele description [Variation Report for NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp)]

NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp)

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.333G>C (p.Glu111Asp)

HGVS:

NC_000001.11:g.201365269C>G
NG_007556.1:g.17409G>C
NM_000364.4:c.333G>C
NM_001001430.3:c.303G>C
NM_001001431.3:c.303G>C
NM_001001432.3:c.288G>C
NM_001276345.2:c.333G>CMANE SELECT
NM_001276346.2:c.291+341G>C
NM_001276347.2:c.303G>C
NP_000355.2:p.Glu111Asp
NP_001001430.1:p.Glu101Asp
NP_001001431.1:p.Glu101Asp
NP_001001432.1:p.Glu96Asp
NP_001263274.1:p.Glu111Asp
NP_001263276.1:p.Glu101Asp
LRG_431t1:c.333G>C
LRG_431:g.17409G>C
LRG_431p1:p.Glu111Asp
NC_000001.10:g.201334397C>G
NM_001001430.1:c.303G>C

Protein change:

E101D

Links:

dbSNP: rs1659441464

NCBI 1000 Genomes Browser:

rs1659441464

Molecular consequence:

NM_001276346.2:c.291+341G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000364.4:c.333G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001001430.3:c.303G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001001431.3:c.303G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001001432.3:c.288G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276345.2:c.333G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276347.2:c.303G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

TPS1 [Spathaspora passalidarum NRRL Y-27907]
TPS1 [Spathaspora passalidarum NRRL Y-27907]
Gene ID:18872955

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001473814	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Dec 15, 2019)	germline	clinical testing	Citation Link,
SCV001995339	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 27, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001473814

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Dec 15, 2019)

germline

clinical testing

Citation Link,

SCV001995339

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 27, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473814.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The TNNT2 c.303G>C; p.Glu101Asp variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glutamic acid at codon 101 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Glu101Asp variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001995339.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine