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NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 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:
RCV000619118.3

Allele description [Variation Report for NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile)]

NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile)

Genes:
LOC126806423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 [Gene]
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.67462G>A (p.Val22488Ile)
HGVS:
  • NC_000002.12:g.178579735C>T
  • NG_011618.3:g.256068G>A
  • NG_051363.1:g.61909C>T
  • NM_001256850.1:c.62539G>A
  • NM_001267550.2:c.67462G>AMANE SELECT
  • NM_003319.4:c.40267G>A
  • NM_133378.4:c.59758G>A
  • NM_133432.3:c.40642G>A
  • NM_133437.4:c.40843G>A
  • NP_001243779.1:p.Val20847Ile
  • NP_001254479.2:p.Val22488Ile
  • NP_003310.4:p.Val13423Ile
  • NP_596869.4:p.Val19920Ile
  • NP_597676.3:p.Val13548Ile
  • NP_597681.4:p.Val13615Ile
  • LRG_391:g.256068G>A
  • NC_000002.11:g.179444462C>T
Protein change:
V13423I
Links:
dbSNP: rs1553622498
NCBI 1000 Genomes Browser:
rs1553622498
Molecular consequence:
  • NM_001256850.1:c.62539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.67462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.40267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.59758G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.40642G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.40843G>A - 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
SCV000735833Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 10, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000735833.5

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

Description

The p.V13423I variant (also known as c.40267G>A), located in coding exon 146 of the TTN gene, results from a G to A substitution at nucleotide position 40267. The valine at codon 13423 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024