NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) AND Hypertrophic cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000154282.5

Allele description [Variation Report for NM_001276345.2(TNNT2):c.316_318del (p.Glu106del)]

NM_001276345.2(TNNT2):c.316_318del (p.Glu106del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_001276345.2(TNNT2):c.316_318del (p.Glu106del)

HGVS:

NC_000001.11:g.201365285_201365287del
NG_007556.1:g.17392_17394del
NM_000364.4:c.316_318del
NM_001001430.3:c.286_288del
NM_001001431.3:c.286_288del
NM_001001432.3:c.271_273del
NM_001276345.2:c.316_318delMANE SELECT
NM_001276346.2:c.291+324_291+326del
NM_001276347.2:c.286_288del
NM_001406723.1:c.316_318del
NM_001406724.1:c.286_288del
NM_001406725.1:c.283_285del
NM_001406726.1:c.286_288del
NM_001406727.1:c.286_288del
NM_001406728.1:c.271_273del
NP_000355.2:p.Glu106del
NP_001001430.1:p.Glu96del
NP_001001431.1:p.Glu96del
NP_001001432.1:p.Glu91del
NP_001263274.1:p.Glu106del
NP_001263276.1:p.Glu96del
NP_001393652.1:p.Glu106del
NP_001393653.1:p.Glu96del
NP_001393654.1:p.Glu95del
NP_001393655.1:p.Glu96del
NP_001393656.1:p.Glu96del
NP_001393657.1:p.Glu91del
LRG_431t1:c.316_318del
LRG_431:g.17392_17394del
LRG_431p1:p.Glu106del
NC_000001.10:g.201334413_201334415del
NC_000001.10:g.201334413_201334415delTCC
NM_001001430.1:c.285_287delGGA

Protein change:

E106del

Links:

OMIM: 191045.0011; dbSNP: rs727504277

NCBI 1000 Genomes Browser:

rs727504277

Molecular consequence:

NM_000364.4:c.316_318del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001001430.3:c.286_288del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001001431.3:c.286_288del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001001432.3:c.271_273del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276345.2:c.316_318del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276347.2:c.286_288del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406723.1:c.316_318del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406724.1:c.286_288del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406725.1:c.283_285del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406726.1:c.286_288del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406727.1:c.286_288del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406728.1:c.271_273del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276346.2:c.291+324_291+326del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000203941	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Likely pathogenic (Mar 1, 2008)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203941

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Likely pathogenic
(Mar 1, 2008)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000203941.4

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

Description

proposed classification - variant undergoing re-assessment, contact laboratory

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

Last Updated: Nov 11, 2023

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