NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 2021
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:: RCV002223189.1

Allele description [Variation Report for NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)]

NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)

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.81321C>G (p.Tyr27107Ter)

HGVS:

NC_000002.12:g.178564811G>C
NG_011618.3:g.270992C>G
NG_051363.1:g.46985G>C
NM_001256850.1:c.76398C>G
NM_001267550.2:c.81321C>GMANE SELECT
NM_003319.4:c.54126C>G
NM_133378.4:c.73617C>G
NM_133432.3:c.54501C>G
NM_133437.4:c.54702C>G
NP_001243779.1:p.Tyr25466Ter
NP_001254479.2:p.Tyr27107Ter
NP_003310.4:p.Tyr18042Ter
NP_596869.4:p.Tyr24539Ter
NP_597676.3:p.Tyr18167Ter
NP_597681.4:p.Tyr18234Ter
LRG_391t1:c.81321C>G
LRG_391:g.270992C>G
NC_000002.11:g.179429538G>C
NM_001256850.1:c.76398C>G
NM_003319.4:c.54126C>G
p.Tyr24539X

Protein change:

Y18042*

Links:

dbSNP: rs557312035

NCBI 1000 Genomes Browser:

rs557312035

Molecular consequence:

NM_001256850.1:c.76398C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001267550.2:c.81321C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_003319.4:c.54126C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_133378.4:c.73617C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_133432.3:c.54501C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_133437.4:c.54702C>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002501500	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 12, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25589632, 31983221, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002501500

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 12, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, et al.

Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.

PubMed [citation]

PMID:: 25589632
PMCID:: PMC4560092

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, et al.

Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27.

PubMed [citation]

PMID:: 31983221
PMCID:: PMC7004454

See all PubMed Citations (3)

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002501500.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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		1	not provided	not provided	not provided

Last Updated: May 16, 2025

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