NM_001276345.2(TNNT2):c.294+7G>A AND Hypertrophic cardiomyopathy

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Oct 10, 2022
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:: RCV000317958.14

Allele description [Variation Report for NM_001276345.2(TNNT2):c.294+7G>A]

NM_001276345.2(TNNT2):c.294+7G>A

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.294+7G>A

HGVS:

NC_000001.11:g.201365603C>T
NG_007556.1:g.17075G>A
NM_000364.4:c.294+7G>A
NM_001001430.3:c.264+7G>A
NM_001001431.3:c.264+7G>A
NM_001001432.3:c.249+7G>A
NM_001276345.2:c.294+7G>AMANE SELECT
NM_001276346.2:c.291+7G>A
NM_001276347.2:c.264+7G>A
LRG_431t1:c.294+7G>A
LRG_431:g.17075G>A
NC_000001.10:g.201334731C>T
NM_000364.3:c.294+7G>A
NM_001001430.1:c.264+7G>A
NM_001001430.2:c.264+7G>A
NM_001001432.1:c.249+7G>A
NM_001276345.2:c.294+7G>A
c.264+7G>A

Links:

dbSNP: rs45490292

NCBI 1000 Genomes Browser:

rs45490292

Molecular consequence:

NM_000364.4:c.294+7G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001001430.3:c.264+7G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001001431.3:c.264+7G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001001432.3:c.249+7G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001276345.2:c.294+7G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001276346.2:c.291+7G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001276347.2:c.264+7G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

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
SCV000353348	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV003803068	Cohesion Phenomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Oct 10, 2022)	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

SCV000353348

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV003803068

Cohesion Phenomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Oct 10, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	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 Illumina Laboratory Services, Illumina, SCV000353348.2

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

From Cohesion Phenomics, SCV003803068.1

#	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	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