NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) AND Dilated cardiomyopathy 1G

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001129726.12

Allele description [Variation Report for NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)]

NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)

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.98390A>G (p.Asn32797Ser)

Other names:

p.N31156S:AAC>AGC

HGVS:

NC_000002.12:g.178539675T>C
NG_011618.3:g.296128A>G
NG_051363.1:g.21849T>C
NM_001256850.1:c.93467A>G
NM_001267550.2:c.98390A>GMANE SELECT
NM_003319.4:c.71195A>G
NM_133378.4:c.90686A>G
NM_133432.3:c.71570A>G
NM_133437.4:c.71771A>G
NP_001243779.1:p.Asn31156Ser
NP_001254479.1:p.Asn32797Ser
NP_001254479.2:p.Asn32797Ser
NP_003310.4:p.Asn23732Ser
NP_596869.4:p.Asn30229Ser
NP_596869.4:p.Asn30229Ser
NP_597676.3:p.Asn23857Ser
NP_597681.4:p.Asn23924Ser
LRG_391t1:c.98390A>G
LRG_391:g.296128A>G
LRG_391p1:p.Asn32797Ser
NC_000002.11:g.179404402T>C
NM_001267550.1:c.98390A>G
NM_133379.3:c.*205910A>G
NR_038272.1:n.1625T>C
c.90686A>G

Protein change:

N23732S

Links:

dbSNP: rs149001703

NCBI 1000 Genomes Browser:

rs149001703

Molecular consequence:

NM_001256850.1:c.93467A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.98390A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.71195A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.90686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.71570A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.71771A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_038272.1:n.1625T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dilated cardiomyopathy 1G (CMD1G)
Identifiers:: MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

Recent activity

Clear Turn Off Turn On

HQ161847 (0)
PMC

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
SCV001289269	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	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

SCV001289269

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

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

The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel.

Schweizer PA, Schröter J, Greiner S, Haas J, Yampolsky P, Mereles D, Buss SJ, Seyler C, Bruehl C, Draguhn A, Koenen M, Meder B, Katus HA, Thomas D.

J Am Coll Cardiol. 2014 Aug 26;64(8):757-67. doi: 10.1016/j.jacc.2014.06.1155.

PubMed [citation]

PMID:: 25145518

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001289269.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Sep 16, 2024

ClinVar

Relating variation to medicine