NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs) AND Dilated cardiomyopathy 1G

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 25, 2023
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:: RCV003228769.1

Allele description [Variation Report for NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)]

NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)

HGVS:

NC_000002.12:g.178542284_178542285del
NG_011618.3:g.293519_293520del
NG_051363.1:g.24458_24459del
NM_001256850.1:c.92549_92550del
NM_001267550.2:c.97472_97473delMANE SELECT
NM_003319.4:c.70277_70278del
NM_133378.4:c.89768_89769del
NM_133432.3:c.70652_70653del
NM_133437.4:c.70853_70854del
NP_001243779.1:p.Ile30850fs
NP_001254479.1:p.Ile32491Argfs
NP_001254479.2:p.Ile32491fs
NP_003310.4:p.Ile23426fs
NP_596869.4:p.Ile29923fs
NP_597676.3:p.Ile23551fs
NP_597681.4:p.Ile23618fs
LRG_391t1:c.97471_97472del
LRG_391:g.293519_293520del
LRG_391p1:p.Ile32491Argfs
NC_000002.11:g.179407011_179407012del
NM_001267550.1:c.97471_97472delAT
NR_038272.1:n.1966_1967del

Protein change:

I23426fs

Molecular consequence:

NM_001256850.1:c.92549_92550del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.97472_97473del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.70277_70278del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.89768_89769del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.70652_70653del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.70853_70854del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_038272.1:n.1966_1967del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dilated cardiomyopathy 1G (CMD1G)
Identifiers:: MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925613	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 25, 2023)	paternal	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

SCV003925613

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 25, 2023)

paternal

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	paternal	unknown	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV003925613.1

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

Description

_x000D_ Criteria applied: PVS1, PM2_SUP

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

Last Updated: May 27, 2023

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