NM_001267550.2(TTN):c.104399del (p.Arg34800fs) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Jun 8, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000287782.16

Allele description [Variation Report for NM_001267550.2(TTN):c.104399del (p.Arg34800fs)]

NM_001267550.2(TTN):c.104399del (p.Arg34800fs)

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.104399del (p.Arg34800fs)

Other names:

NM_001267550.2(TTN):c.104399del; p.Arg34800fs

HGVS:

NC_000002.12:g.178532216del
NG_011618.3:g.303587del
NG_051363.1:g.14390del
NM_001256850.1:c.99476del
NM_001267550.2:c.104399delMANE SELECT
NM_003319.4:c.77204del
NM_133378.4:c.96695del
NM_133432.3:c.77579del
NM_133437.4:c.77780del
NP_001243779.1:p.Arg33159fs
NP_001254479.2:p.Arg34800fs
NP_003310.4:p.Arg25735fs
NP_596869.4:p.Arg32232fs
NP_597676.3:p.Arg25860fs
NP_597681.4:p.Arg25927fs
LRG_391:g.303587del
NC_000002.11:g.179396943del
NC_000002.12:g.178532216delC
NM_001256850.1:c.99476delG
NM_001267550.2:c.104399del
NM_003319.4:c.77204delG

Protein change:

R25735fs

Links:

dbSNP: rs747662439

NCBI 1000 Genomes Browser:

rs747662439

Molecular consequence:

NM_001256850.1:c.99476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001267550.2:c.104399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003319.4:c.77204del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133378.4:c.96695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133432.3:c.77579del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133437.4:c.77780del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000342134	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Jun 21, 2016)	germline	clinical testing	Citation Link,
SCV001450350	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 25, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001714015	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 14, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002021514	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 29, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005198891	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 8, 2022)	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	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	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 Eurofins Ntd Llc (ga), SCV000342134.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV001450350.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714015.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002021514.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005198891.1

#	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: Sep 29, 2024

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