NM_001267550.2(TTN):c.70858A>T (p.Arg23620Ter) AND Interstitial cardiac fibrosis

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:: RCV000850020.1

Allele description [Variation Report for NM_001267550.2(TTN):c.70858A>T (p.Arg23620Ter)]

NM_001267550.2(TTN):c.70858A>T (p.Arg23620Ter)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.70858A>T (p.Arg23620Ter)

HGVS:

NC_000002.12:g.178575274T>A
NG_011618.3:g.260529A>T
NG_051363.1:g.57448T>A
NM_001256850.1:c.65935A>T
NM_001267550.2:c.70858A>TMANE SELECT
NM_003319.4:c.43663A>T
NM_133378.4:c.63154A>T
NM_133432.3:c.44038A>T
NM_133437.4:c.44239A>T
NP_001243779.1:p.Arg21979Ter
NP_001254479.2:p.Arg23620Ter
NP_003310.4:p.Arg14555Ter
NP_596869.4:p.Arg21052Ter
NP_597676.3:p.Arg14680Ter
NP_597681.4:p.Arg14747Ter
LRG_391:g.260529A>T
NC_000002.11:g.179440001T>A
p.R23620*

Protein change:

R14555*

Links:

dbSNP: rs1575800019

NCBI 1000 Genomes Browser:

rs1575800019

Molecular consequence:

NM_001256850.1:c.65935A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001267550.2:c.70858A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003319.4:c.43663A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133378.4:c.63154A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133432.3:c.44038A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133437.4:c.44239A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Interstitial cardiac fibrosis
Identifiers:: MedGen: C4531194; Human Phenotype Ontology: HP:0031329

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992162	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

SCV000992162

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, SCV000992162.1

#	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: Nov 5, 2022

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