NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) AND Dilated cardiomyopathy 1FF

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 1, 2018
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:: RCV000850015.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992157	Heart Center, Academic Medical Center Amsterdam	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 1, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992157

Heart Center, Academic Medical Center Amsterdam

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 1, 2018)

unknown

research

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

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 Heart Center, Academic Medical Center Amsterdam, SCV000992157.1

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

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

Last Updated: May 26, 2024

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