NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs) AND Dilated cardiomyopathy 1G

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 2016
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:: RCV000502092.1

Allele description [Variation Report for NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs)]

NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs)

HGVS:

NC_000002.12:g.178706901AG[1]
NG_011618.3:g.128899CT[1]
NM_001256850.1:c.28143_28144del
NM_001267550.2:c.29094_29095delMANE SELECT
NM_003319.4:c.13282+31180_13282+31181del
NM_133378.4:c.25362_25363del
NM_133432.3:c.13657+31180_13657+31181del
NM_133437.4:c.13858+31180_13858+31181del
NP_001243779.1:p.Phe9383fs
NP_001254479.2:p.Phe9700fs
NP_596869.4:p.Phe8456fs
LRG_391:g.128899CT[1]
NC_000002.11:g.179571628AG[1]
p.(Phe8456Cysfs*24)

Protein change:

F8456fs

Links:

dbSNP: rs1553882262

NCBI 1000 Genomes Browser:

rs1553882262

Molecular consequence:

NM_001256850.1:c.28143_28144del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.29094_29095del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.25362_25363del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.13282+31180_13282+31181del - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13657+31180_13657+31181del - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13858+31180_13858+31181del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000598115	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 21, 2016)	maternal	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

SCV000598115

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 21, 2016)

maternal

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	maternal	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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000598115.1

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

Description

This pathogenic variant was found in a young patient with severe dilated cardiomyopathy, in combination with 2 variants (compound heterozygosity) in the TNNT2 gene. The combination of these three variants explain this severe phenotype in such a young patient.

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

Last Updated: Nov 5, 2022

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