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NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 20, 2015
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:
RCV000243973.3

Allele description [Variation Report for NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val)]

NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val)

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.79103G>T (p.Gly26368Val)
HGVS:
  • NC_000002.12:g.178567029C>A
  • NG_011618.3:g.268774G>T
  • NG_051363.1:g.49203C>A
  • NM_001256850.1:c.74180G>T
  • NM_001267550.2:c.79103G>TMANE SELECT
  • NM_003319.4:c.51908G>T
  • NM_133378.4:c.71399G>T
  • NM_133432.3:c.52283G>T
  • NM_133437.4:c.52484G>T
  • NP_001243779.1:p.Gly24727Val
  • NP_001254479.2:p.Gly26368Val
  • NP_003310.4:p.Gly17303Val
  • NP_596869.4:p.Gly23800Val
  • NP_597676.3:p.Gly17428Val
  • NP_597681.4:p.Gly17495Val
  • LRG_391:g.268774G>T
  • NC_000002.11:g.179431756C>A
Protein change:
G17303V
Links:
dbSNP: rs371325635
NCBI 1000 Genomes Browser:
rs371325635
Molecular consequence:
  • NM_001256850.1:c.74180G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.79103G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.51908G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.71399G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.52283G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.52484G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000319639Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 20, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000319639.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.G17303V variant (also known as c.51908G>T), located in coding exon 153 of the TTN gene, results from a G to T substitution at nucleotide position 51908. The glycine at codon 17303 is replaced by valine, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs371325635. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/11908) total alleles studied and 0.01% (1/8176) European American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of p.G17303V remains unclear.

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

Last Updated: Jul 29, 2024