U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 4, 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:
RCV000244887.6

Allele description [Variation Report for NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)]

NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)

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.64174C>T (p.Arg21392Cys)
Other names:
p.R19751C:CGT>TGT
HGVS:
  • NC_000002.12:g.178586727G>A
  • NG_011618.3:g.249076C>T
  • NG_051363.1:g.68901G>A
  • NM_001256850.1:c.59251C>T
  • NM_001267550.2:c.64174C>TMANE SELECT
  • NM_003319.4:c.36979C>T
  • NM_133378.4:c.56470C>T
  • NM_133432.3:c.37354C>T
  • NM_133437.4:c.37555C>T
  • NP_001243779.1:p.Arg19751Cys
  • NP_001254479.2:p.Arg21392Cys
  • NP_003310.4:p.Arg12327Cys
  • NP_596869.4:p.Arg18824Cys
  • NP_597676.3:p.Arg12452Cys
  • NP_597681.4:p.Arg12519Cys
  • LRG_391:g.249076C>T
  • NC_000002.11:g.179451454G>A
  • c.56470C>T
Protein change:
R12327C
Links:
dbSNP: rs72646859
NCBI 1000 Genomes Browser:
rs72646859
Molecular consequence:
  • NM_001256850.1:c.59251C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.64174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.36979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.56470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.37354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.37555C>T - missense variant - [Sequence Ontology: SO:0001583]

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320083Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 4, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780

Details of each submission

From Ambry Genetics, SCV000320083.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024