NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) AND Cardiovascular phenotype

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 24, 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:: RCV000242789.3

Allele description [Variation Report for NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)]

NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)

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.79700A>G (p.Asn26567Ser)

Other names:

p.N24926S:AAC>AGC

HGVS:

NC_000002.12:g.178566432T>C
NG_011618.3:g.269371A>G
NG_051363.1:g.48606T>C
NM_001256850.1:c.74777A>G
NM_001267550.2:c.79700A>GMANE SELECT
NM_003319.4:c.52505A>G
NM_133378.4:c.71996A>G
NM_133432.3:c.52880A>G
NM_133437.4:c.53081A>G
NP_001243779.1:p.Asn24926Ser
NP_001254479.2:p.Asn26567Ser
NP_003310.4:p.Asn17502Ser
NP_596869.4:p.Asn23999Ser
NP_597676.3:p.Asn17627Ser
NP_597681.4:p.Asn17694Ser
LRG_391t1:c.79700A>G
LRG_391:g.269371A>G
NC_000002.11:g.179431159T>C
NM_001267550.1:c.79700A>G

Protein change:

N17502S

Links:

dbSNP: rs183844833

NCBI 1000 Genomes Browser:

rs183844833

Molecular consequence:

NM_001256850.1:c.74777A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.79700A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.52505A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.71996A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.52880A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.53081A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000318505	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (2/2020))	Benign (Mar 24, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318505

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (2/2020))

Benign
(Mar 24, 2020)

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, SCV000318505.5

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

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)

#	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 15, 2024

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