NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr) AND Cardiomyopathy, familial restrictive, 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 2023
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:: RCV003449497.1

Allele description [Variation Report for NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)]

NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)

Gene:

TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)

HGVS:

NC_000001.11:g.201365254_201365255delinsAG
NG_007556.1:g.17423_17424delinsCT
NM_000364.4:c.347_348delinsCT
NM_001001430.3:c.317_318delinsCT
NM_001001431.3:c.317_318delinsCT
NM_001001432.3:c.302_303delinsCT
NM_001276345.2:c.347_348delinsCTMANE SELECT
NM_001276346.2:c.291+355_291+356delinsCT
NM_001276347.2:c.317_318delinsCT
NP_000355.2:p.Ile116Thr
NP_001001430.1:p.Ile106Thr
NP_001001431.1:p.Ile106Thr
NP_001001432.1:p.Ile101Thr
NP_001263274.1:p.Ile116Thr
NP_001263276.1:p.Ile106Thr
LRG_431t1:c.347_348delinsCT
LRG_431:g.17423_17424delinsCT
LRG_431p1:p.Ile116Thr
NC_000001.10:g.201334382_201334383delinsAG
NM_001001430.1:c.317_318delTCinsCT
NM_001001430.1:c.317_318delinsCT
NM_001001430.2:c.317_318delTCinsCT

Protein change:

I101T

Links:

dbSNP: rs1553282523

NCBI 1000 Genomes Browser:

rs1553282523

Molecular consequence:

NM_001276346.2:c.291+355_291+356delinsCT - intron variant - [Sequence Ontology: SO:0001627]
NM_000364.4:c.347_348delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001001430.3:c.317_318delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001001431.3:c.317_318delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001001432.3:c.302_303delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001276345.2:c.347_348delinsCT - missense variant - [Sequence Ontology: SO:0001583]
NM_001276347.2:c.317_318delinsCT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiomyopathy, familial restrictive, 3
Identifiers:: MONDO: MONDO:0012900; MedGen: C2676271; Orphanet: 75249; OMIM: 612422

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004181459	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004181459

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 11, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV004181459.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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