NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 17, 2020
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:: RCV002367699.9

Allele description [Variation Report for NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu)]

NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu)

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.89491A>G (p.Lys29831Glu)

HGVS:

NC_000002.12:g.178553514T>C
NG_011618.3:g.282289A>G
NG_051363.1:g.35688T>C
NM_001256850.1:c.84568A>G
NM_001267550.2:c.89491A>GMANE SELECT
NM_003319.4:c.62296A>G
NM_133378.4:c.81787A>G
NM_133432.3:c.62671A>G
NM_133437.4:c.62872A>G
NP_001243779.1:p.Lys28190Glu
NP_001254479.2:p.Lys29831Glu
NP_003310.4:p.Lys20766Glu
NP_596869.4:p.Lys27263Glu
NP_597676.3:p.Lys20891Glu
NP_597681.4:p.Lys20958Glu
LRG_391:g.282289A>G
NC_000002.11:g.179418241T>C
NM_001267550.2:c.89491A>G

Protein change:

K20766E

Links:

dbSNP: rs774632104

NCBI 1000 Genomes Browser:

rs774632104

Molecular consequence:

NM_001256850.1:c.84568A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.89491A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.62296A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.81787A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.62671A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.62872A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002659420	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 17, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002659420

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 17, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, et al.

PLoS One. 2017;12(8):e0181465. doi: 10.1371/journal.pone.0181465.

PubMed [citation]

PMID:: 28771489
PMCID:: PMC5542623

Details of each submission

From Ambry Genetics, SCV002659420.2

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

Description

The p.K20766E variant (also known as c.62296A>G), located in coding exon 161 of the TTN gene, results from an A to G substitution at nucleotide position 62296. The lysine at codon 20766 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. This alteration was identified in one individual with hypertrophic cardiomyopathy (Mademont-Soler I et al. PLoS ONE, 2017 Aug;12:e0181465). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

Last Updated: Nov 24, 2024

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