NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) AND Arrhythmogenic right ventricular dysplasia 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 2019
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:: RCV001256704.10

Allele description [Variation Report for NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])]

NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])

HGVS:

NC_000002.11:g.179542469_179542489del
NC_000002.12:g.178677751TTCAGGTAGAACTTCCTCTTC[1]
NC_000002.12:g.178677751_178677771del
NG_011618.3:g.158020GTTCTACCTGAAGAAGAGGAA[1]
NM_001256850.1:c.33178GTTCTACCTGAAGAAGAGGAA[1]
NM_001256850.1:c.33199_33219del
NM_001267550.2:c.34129GTTCTACCTGAAGAAGAGGAA[1]MANE SELECT
NM_001267550.2:c.34150_34170del
NM_003319.4:c.13283-35445_13283-35425del
NM_133378.4:c.30397GTTCTACCTGAAGAAGAGGAA[1]
NM_133432.3:c.13658-35445_13658-35425del
NM_133437.4:c.13859-35445_13859-35425del
NP_001243779.1:p.11046VLPEEEE[3]
NP_001254479.2:p.11363VLPEEEE[3]
NP_596869.4:p.10119VLPEEEE[3]
LRG_391:g.158020GTTCTACCTGAAGAAGAGGAA[1]
NC_000002.11:g.179542469_179542489del
NC_000002.11:g.179542478TTCAGGTAGAACTTCCTCTTC[1]
NC_000002.11:g.179542499_179542519delTTCAGGTAGAACTTCCTCTTC
NM_001256850.1:c.33199_33219del
NM_001256850.1:c.33199_33219del21
NM_001267550.2:c.34141_34161delGAAGAGGAAGTTCTACCTGAAMANE SELECT
NM_001267550.2:c.34150_34170delMANE SELECT
NM_001267550.2:c.34150_34170del21MANE SELECT
NM_001267550.2:c.34150_34170delGTTCTACCTGAAGAAGAGGAAMANE SELECT
NM_133378.4:c.30418_30438del21

Links:

dbSNP: rs587780487

NCBI 1000 Genomes Browser:

rs587780487

Molecular consequence:

NM_001256850.1:c.33178GTTCTACCTGAAGAAGAGGAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001267550.2:c.34129GTTCTACCTGAAGAAGAGGAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_133378.4:c.30397GTTCTACCTGAAGAAGAGGAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003319.4:c.13283-35445_13283-35425del - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13658-35445_13658-35425del - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13859-35445_13859-35425del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Arrhythmogenic right ventricular dysplasia 1
Synonyms:: Arrhythmogenic right ventricular dysplasia, familial 1
Identifiers:: MONDO: MONDO:0007152; MedGen: C1862511; Orphanet: 3403; OMIM: 107970

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001433107	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 30, 2019)	germline	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

SCV001433107

Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 30, 2019)

germline

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	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 Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV001433107.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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Relating variation to medicine