NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 2013
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:: RCV000252440.1

Allele description [Variation Report for NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr)]

NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr)

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.63116A>C (p.Lys21039Thr)

HGVS:

NC_000002.12:g.178588609T>G
NG_011618.3:g.247194A>C
NG_051363.1:g.70783T>G
NM_001256850.1:c.58193A>C
NM_001267550.2:c.63116A>CMANE SELECT
NM_003319.4:c.35921A>C
NM_133378.4:c.55412A>C
NM_133432.3:c.36296A>C
NM_133437.4:c.36497A>C
NP_001243779.1:p.Lys19398Thr
NP_001254479.2:p.Lys21039Thr
NP_003310.4:p.Lys11974Thr
NP_596869.4:p.Lys18471Thr
NP_597676.3:p.Lys12099Thr
NP_597681.4:p.Lys12166Thr
LRG_391:g.247194A>C
NC_000002.11:g.179453336T>G
NM_001267550.2:c.63116A>C

Protein change:

K11974T

Links:

dbSNP: rs886038878

NCBI 1000 Genomes Browser:

rs886038878

Molecular consequence:

NM_001256850.1:c.58193A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.63116A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.35921A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.55412A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.36296A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.36497A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318788	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Uncertain significance (Jul 12, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318788

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Uncertain significance
(Jul 12, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000318788.5

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

Description

There is insufficient or conflicting evidence for classification of this alteration.

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

Last Updated: Jul 29, 2024

ClinVar

Relating variation to medicine