NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 18, 2017
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:: RCV000477941.4

Allele description

NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)

Gene:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)

Other names:

p.R162Q:CGG>CAG

HGVS:

NC_000019.10:g.55154094C>T
NG_007866.2:g.8639G>A
NG_011829.2:g.145G>A
NM_000363.5:c.485G>AMANE SELECT
NP_000354.4:p.Arg162Gln
LRG_432t1:c.485G>A
LRG_432:g.8639G>A
LRG_679:g.145G>A
NC_000019.9:g.55665462C>T
NM_000363.4:c.485G>A
P19429:p.Arg162Gln
c.485G>A
p.R162Q

Protein change:

R162Q

Links:

UniProtKB: P19429#VAR_042745; dbSNP: rs397516354

NCBI 1000 Genomes Browser:

rs397516354

Molecular consequence:

NM_000363.5:c.485G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dilated cardiomyopathy 2A (CMD2A)
Synonyms:: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE; CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0012746; MedGen: C2678474; Orphanet: 154; OMIM: 611880

Name:: Cardiomyopathy, familial restrictive, 1
Identifiers:: MONDO: MONDO:0007270; MedGen: C1861861; Orphanet: 75249; OMIM: 115210

Name:: Dilated cardiomyopathy 1FF (CMD1FF)
Identifiers:: MONDO: MONDO:0013211; MedGen: C2750091; Orphanet: 154; OMIM: 613286

Name:: Hypertrophic cardiomyopathy 7
Synonyms:: Familial hypertrophic cardiomyopathy 7; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; TNNI3-Related Familial Hypertrophic Cardiomyopathy
Identifiers:: MONDO: MONDO:0013369; MedGen: C1860752; OMIM: 613690

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536702	Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq	no assertion criteria provided	Likely pathogenic (Oct 31, 2014)	germline	research	PubMed (5) [See all records that cite these PMIDs] 12860912, 15607392, 15698845, 21511876, 22876777
SCV000611326	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 18, 2017)	unknown	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

SCV000536702

Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq

no assertion criteria provided

Likely pathogenic
(Oct 31, 2014)

germline

research

PubMed (5)
[See all records that cite these PMIDs]

SCV000611326

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 18, 2017)

unknown

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	research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ.

Circulation. 2003 Jul 29;108(4):445-51. Epub 2003 Jul 14.

PubMed [citation]

PMID:: 12860912

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.

J Am Coll Cardiol. 2004 Dec 21;44(12):2315-25.

PubMed [citation]

PMID:: 15607392

See all PubMed Citations (6)

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536702.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (5)

#	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 Fulgent Genetics, Fulgent Genetics, SCV000611326.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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