NM_003282.4(TNNI2):c.380_391del (p.Leu127_Lys130del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 1, 2020
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:: RCV000415803.20

Allele description [Variation Report for NM_003282.4(TNNI2):c.380_391del (p.Leu127_Lys130del)]

NM_003282.4(TNNI2):c.380_391del (p.Leu127_Lys130del)

Gene:

TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_003282.4(TNNI2):c.380_391del (p.Leu127_Lys130del)

HGVS:

NC_000011.10:g.1841134_1841145del
NG_011621.1:g.7132_7143del
NM_001145829.2:c.380_391del
NM_001145841.2:c.380_391del
NM_003282.4:c.380_391delMANE SELECT
NP_001139301.1:p.Leu127_Lys130del
NP_001139313.1:p.Leu127_Lys130del
NP_003273.1:p.Leu127_Lys130del
LRG_851t1:c.380_391del
LRG_851:g.7132_7143del
LRG_851p1:p.Leu127_Lys130del
NC_000011.9:g.1862364_1862375del

Links:

dbSNP: rs1057519093

NCBI 1000 Genomes Browser:

rs1057519093

Molecular consequence:

NM_001145829.2:c.380_391del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001145841.2:c.380_391del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003282.4:c.380_391del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000493138	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Feb 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000493138

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Feb 1, 2020)

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	4	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000493138.27

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

#	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		4	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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