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NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 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:
RCV000242748.3

Allele description [Variation Report for NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)]

NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)

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.97099C>T (p.Arg32367Cys)
Other names:
p.R30726C:CGT>TGT
HGVS:
  • NC_000002.12:g.178542755G>A
  • NG_011618.3:g.293048C>T
  • NG_051363.1:g.24929G>A
  • NM_001256850.1:c.92176C>T
  • NM_001267550.2:c.97099C>TMANE SELECT
  • NM_003319.4:c.69904C>T
  • NM_133378.4:c.89395C>T
  • NM_133432.3:c.70279C>T
  • NM_133437.4:c.70480C>T
  • NP_001243779.1:p.Arg30726Cys
  • NP_001254479.2:p.Arg32367Cys
  • NP_003310.4:p.Arg23302Cys
  • NP_596869.4:p.Arg29799Cys
  • NP_597676.3:p.Arg23427Cys
  • NP_597681.4:p.Arg23494Cys
  • LRG_391:g.293048C>T
  • NC_000002.11:g.179407482G>A
  • c.89395C>T
Protein change:
R23302C
Links:
dbSNP: rs202064385
NCBI 1000 Genomes Browser:
rs202064385
Molecular consequence:
  • NM_001256850.1:c.92176C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.97099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.69904C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.89395C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.70279C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.70480C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318279Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Feb 7, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318279.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

​The p.R29799C variant (also known as c.89395C>T) is located in coding exon 296 of the TTN gene. This alteration results from a C to T substitution at nucleotide position 89395. The arginine at codon 29799 is replaced by cysteine, an amino acid with highly dissimilar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the T-allele has an overall frequency of approximately 0.02% (2/12,044), having not been observed in 3789 of African American alleles, and observedin0.02% (2/8246) of European American alleles. Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging by PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.R29799C remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024